Infant screening for genetic disease (Poll) [Archive]

Bakora

05-04-2005, 06:50

Just to clear something up - my personal opinions on this matter are going to remain out of this post. He wanted argument, so I'm going to give it. That's all this post is, flame my statements all you want but don't flame me. This doesn't necesssarily represent my own personal views.

Also, I'll apologize in advance. I just joined Nation States and this is my first post on the boards.

All that being said...

I agree. Everything doesn't turn out like Science Fiction. However, Anthem, Gattaca, 1984, Brave New World are not really Science Fiction. They are social Commentary - or if you want to accept the stance of Jennifer Government, they are "Satires". The reason Jennifer Government is so appreciated is because it is possible for society to turn out that way. I do not see these books as Fiction, I see them as a warning against what our society might become.

And that I think is what you are discussing. At the risk of getting personal Flames (please don't) I'd like to point out that the Nazi Party in Germany beleived they were the "Master Race". It wasn't just Jews that died in Concentration Camps, it was cripples and dengeratres who had some kind of "imperfection" in their body that kept them from being a member of the "Master Race".

(DISCLAIMER: I am not condoning the Nazi's Actions, the theory of a master race. Nor am I calling states that test babies Nazis. In fact, I haven't called anyone a Nazi, nor do I intend to. Also, I am not attempting to belittle the Jews and their losses in any way shape or form. Simply point out an example from history.)

That all being said...do you want to create a "perfect" society? Do you want a place where everyone walks talks and looks the same? I mean, think about it next time. All the changes that would bring into place. No more wheel chair ramps - there wouldn't be handicapped people after all. No more wheel-chair accessible bathrooms. But it doesn't stop there. Some genetic diseases can affect the mind. You would take out kids who were mentally handicapped, no more special education classes or classrooms. Everyone would be exactly the same. I don't support that at all.

Now, it's wonderful to say that it wouldn't happen, but I guarantee that if you started telling people what their children would turn out like, at least some of them, maybe a fraction of point 1 percent would want to change them, or not have the baby.

And I don't think that's right. That's the practical argument, and the moral one.

There's a whole seperate Religious issue. I don't care if you're Catholic or Morman or Muslim - if you accept that there is a God in the Universe-

(Disclaimer: I am not condoning or accepting any religion, if yours wasn't listed I'm sorry, I just used the first three that came to mind. Also, the religons listed do not reflect the personal opinion of the Author, they are simply listed as examples. I am not supporting or condoning that there is or isn't a God, my personal opinions are kept out of this post, as stated before, I am simply playing devils advocate.)

-then you accept that he creates each person and he creates them all uniquely with a plan in mind for their life. To that end, using Science to mess with God's creation isn't morally right. It's thumbing your nose at God and saying, "You were wrong when you created this person - I know more about what's better for him/her then you do, even though you're God and I'm just a mortal man." In an essence, you're playing God.

Anyway, that sums up the arguments. Inevitably there will be people who don't read my disclaimers and accuse me of calling everyone from Georgia a Nazi, or for insulting the Baptist subdivision of Christianty for not listing it, or for hating children and scientific progress, but as I stated before, I keep my personal opinions to myself. I'm just playing devil's advocate. I've said that three times now, maybe it will be enough.

Have at thee, good friends! Attack my facts, attack my posts, but please...keep it civil. Don't attack me. I had nothing to do with this argument, I just posted it.

Dempublicents1

05-04-2005, 06:56

Bakora,

You are obviously incredibly confused as to what we are talking about here.

(a) We are not talking about any prenatal screening. This is all after birth, so there is no way a parent could attempt to change or not have the child.

(b) We are talking about disorders that will either be treated or kill the child. Finding them early keeps *some* children from severe mental retardation - it does not end all retardation, as there are many unknown disorders and many disorders that are not treatable. The disorders I am referring to are easily treatable, so long as they are caught early. There is no "changing them", it is simply a matter of a restricted diet. Treating these disorders is no more difficult (in fact, often less difficult) than treating diabetes.

Bakora

05-04-2005, 07:17

Dempublicents1

05-04-2005, 07:23

Actually, I did understand what you were talking about, I just took some liberty with my posting to cover some related issues, which is prenatal screening. Something that is entirely possible. I have in fact, heard of families choosing not to have children because of how they will turn out, which makes me sick. And I think this just brings us a step closer to the same thing.

The slippery slope argument is a fallacy.

Also, if you accept the religious argument, and that's simply one that I put forth, if you do anything before or after the birth of the child to affect how it will turn out you are affecting God's plan for the childs life.

There are those who refuse all medical treatment and, as I said, they are allowed that right. I personally think they are idiots, but it is their right to do so.

Another point, it isn't possible to catch all diesease. It isn't possible to cure all diseases. So there will still be retardation, and diseases running around the world. I agree. However, do you know why you own a personal PC right now? Because a famous man made Windows, which made computers affordable and usable by everyone. And now we have several operating systems, and several differant brands of computers to buy. Because they were pushed forward and accepted. If you push forward post-birth screening for genetic orders the next step will be to build a machine that can detect all diseases. The next step is to build a machine that will do pre-birth detections (which I believe is possible already, albeit limited) and the step after that will be to develop pre-birth cures. You are opening the door to a whole world of hurt.

By that argument, we never should have started using penicillin, because it opened the door to lethal injections.

Seriously, it is not cost-effective to detect diseases we cannot treat - hence why it is not even tried.

Besides, if you really think the medical community is automatically less ethical than you, you are seriously deluding yourself.

It's something like the Butterfly affect, in time movies. Stepping on one butterfly can change a thousand differant factors of the future and you do not know which of them will be good and which will not. It's like genetic engineering, which was opening the door to Human Cloning. You can't predict how a simple invention, if used and allowed now, will change the technology of the future. Making it widely accepted makes it cheaper and more popular, and that just opens the door to a whole future of advancements that you may not want or see the consequences of.

By this argument, we should stop trying to make life better for anyone, and should crawl back into the caves and let people die from simple cuts and scratches.

I agree that some of the disease are treatable by adjusting something like the diet, or maybe by a shot once a week. Maybe you can even cure them. But again you are affecting who that person will be forever.

If you give a child a vaccine, you are affecting them. If you give a child penicillin when they get sick, you are affecting them. If you *don't* do it, you are affecting them.

Meanwhile, *all*, not just *some*, of the diseases I am referring to are treatable by diet.

If you would seriously rather watch your child suffer and die because you refused medical treatment, go ahead - and that goes for *anyone*, but most of us don't want to watch a preventable tragedy happen any more than most of us would like to stand and watch while a child got hit by a car.

Zoidburg XIX

05-04-2005, 07:42

It's something like the Butterfly affect, in time movies. Stepping on one butterfly can change a thousand differant factors of the future and you do not know which of them will be good and which will not.

Actually I do belive that the movie The Butterfly Effect that you are relating here was based off of a much older philosophy called the Chaos Theory. Thought I'd throw that in since you've used it wrong.

As for debunking the argument. If we were all to take your stance on things we would all go and be completely isolated and die so that we wouldn't inadverntatly affect someone else. Face it, our actions will affect others, I think I would personally be very appriciative if someone was trying to help me with something that needs to be done that I cannot do, even if they might cause other problems.

We all need to realize that we're in this crap together, and help one another.

Bakora

05-04-2005, 07:48

This is why I didn't want to bother posting, now you're calling me unethical? As I said, I'm playing devils advocate, nothing more then that.

You bring up the slippery slope, let's finish that statement. The Slippery slope to hell is paved with good intentions. This is a good intention, isn't it?

The arguement that no one wants to watch a child suffer can be countered. If people are never tested and never tried, how will they know what their limits are?

If the testing and treatment is issued on a voluntary basis, then it would work. But how many parents know exactly where the child is in the first few hours after birth? And exactly what is being done to it? If you want to argue that this is not a problem then I direct you to search for the number of parents who have left the hospital with the wrong children, or how children go missing in hospitals. It happens.

But you're not making the right argument anymore. What we're talking about is government funding to test children before letting them leave the hospital. That's fallacy. It's not the governments responsability to provide anything for anyone.

If you read the constituion at the top of the page it says people have the right to life, liberty, and the pursuit of happiness. You might argue that this falls under the life category, I do not. This falls under the liberty category. It should be the childs choice to be tested or not. Not possible, you say? Then it falls to the parent, but not to the government.

It's the same argument for welfare. Welfare is not supported by the Constitution. The Constitution doesn't say that everyone has the right to eat three square meals a day, it isn't the goverments job to feed it's citizens and it shouldn't make itself responsible for the testing either.

I don't agree with crawling into caves and letting people die from cuts and scrapings, but from everything I've heard Diabetes, and Cancer, and other life threatening diseases are powerful experiances that change peoples perceptions on the world. You're taking that experiance away from them. I myself have suffered greatly in my life, but I wouldn't trade my experiances at all. Some of them were avoidable - some of them were not. But at the end of someones life, all they have left is the sum of their experiances, good or bad. And I think that makes a differance as to who they are. You would take all that away from them.

Also, in your original post you do mention testing for the entire list, and now you state that you do not support that, only testing for treatable disease. If you have the equipment available, eventually all testing will be integrated and then decisions will be made on that data. Good, and bad. I am not advocating refusing medical treatment, what I am advocating is giving people a choice of experiance the disease. And I think if you stick the government into this idea you take away that choice.

Here's an example. Let's say you have the testing done. The results are attatched to the patients medical records. Later, that person needs to get medical care for something, and they rely on Government funding medical care to get it. The government looks at their medical records and say, this person is expensive. It would be cheaper in the future to give people with specific results less money. But to do that, we need to know what the results are. So, we're going to make testing mandatory now.

It wouldn't be a very difficult thing for them to do. The US Government is highly motivated by money.

So for this argument I submit that people who are aware of the testing and want the testing done can do the research and find a clinic or location near them to get it done. And those that don't can continue to have their babies the normal way. Free of government intervention.

It's not a difficult thing to do. And if someone wants to choose to have it happen, then they also choose to accept whatever the cost of that testing is, and however difficult it might be.

Bakora

05-04-2005, 08:01

PS: Yes, Chaos Theory. I knew it had another name, but my sister was just yacking my ear off about the Butterfly Effect this evening, plus I think it sums up the argument a bit better because it's very clear what it means.

Bottle

05-04-2005, 11:43

So, just about every state (sorry to the people from other countries - I don't know what you guys do) has some sort of required infant screening. There is a long list of perfectly treatable genetic metabolic disorders. By treatable, I mean they can be treated by a restricted diet or dietary supplements. If you detect the disease early, and put the infant on the proper diet, no problems will arise. If you do not, the infant will either die or, if it is diagnosed once symptoms arise, will suffer severe developmental defects and mental retardation. Again, these problems are perfectly preventable.

Now, most states have chosen the most common 10 or so to occur in their area and screen all infants for these diseases (they take a few drops of blood, which they send off to some state testing center to be tested). There *is*, however, the technology to test for the entire list. One of the Carolinas (I don't remember which right now) actually carries out this "extended infant screening." I recently discovered that Georgia bought the necessary machinery (basically, a tandem mass spectrometer), but it is sitting unused in the testing center due to budget cuts.

I have discussed this with many people, all of whom agree that they would not mind a very slight increase in taxes (which is all it would be) if they knew that the money was going towards infant screening. I certainly wouldn't. However, most people I have talked to think that the majority would not approve of any tax increase, even to save these infants.

What do you think?

personally i would not mind helping to pay for such screening, but i believe it would be wrong to use taxes to do so. of course, i think that about 90% of what our taxes already go to is unjust, so i'm probably the wrong person to be asking about raising taxes...:)

Dempublicents1

05-04-2005, 14:20

This is why I didn't want to bother posting, now you're calling me unethical? As I said, I'm playing devils advocate, nothing more then that.

I never once called you unethical. Don't be so quick to be a martyr.

If the testing and treatment is issued on a voluntary basis, then it would work. But how many parents know exactly where the child is in the first few hours after birth? And exactly what is being done to it? If you want to argue that this is not a problem then I direct you to search for the number of parents who have left the hospital with the wrong children, or how children go missing in hospitals. It happens.

A parent who refuses medical treatment would not be in the hospital at all. Meanwhile, parents are informed of what is being done with their children.

But you're not making the right argument anymore. What we're talking about is government funding to test children before letting them leave the hospital. That's fallacy. It's not the governments responsability to provide anything for anyone.

Now *that* is an argument that actually applies to the discussion at hand. Notice that it is *you* who went off topic and started talking Gattaca-esque BS, not me.

If you read the constituion at the top of the page it says people have the right to life, liberty, and the pursuit of happiness. You might argue that this falls under the life category, I do not. This falls under the liberty category. It should be the childs choice to be tested or not. Not possible, you say? Then it falls to the parent, but not to the government.

Choice=money?

I don't agree with crawling into caves and letting people die from cuts and scrapings, but from everything I've heard Diabetes, and Cancer, and other life threatening diseases are powerful experiances that change peoples perceptions on the world. You're taking that experiance away from them. I myself have suffered greatly in my life, but I wouldn't trade my experiances at all. Some of them were avoidable - some of them were not. But at the end of someones life, all they have left is the sum of their experiances, good or bad. And I think that makes a differance as to who they are. You would take all that away from them.

So, if your arm were cut and bleeding, you would rather us let it rot off from gangrene than treat it?

Also, in your original post you do mention testing for the entire list, and now you state that you do not support that, only testing for treatable disease.

The "entire list of *treatable* diseases". The extended screening still only tests for those diseases which are treatable - which was pointed out several times already.

If you have the equipment available, eventually all testing will be integrated and then decisions will be made on that data. Good, and bad. I am not advocating refusing medical treatment, what I am advocating is giving people a choice of experiance the disease. And I think if you stick the government into this idea you take away that choice.

Anyone who would choose for their child to die needs to have their children taken away from them.

Here's an example. Let's say you have the testing done. The results are attatched to the patients medical records. Later, that person needs to get medical care for something, and they rely on Government funding medical care to get it. The government looks at their medical records and say, this person is expensive. It would be cheaper in the future to give people with specific results less money. But to do that, we need to know what the results are. So, we're going to make testing mandatory now.

This only works if we are talking about diseases that are *not* treatable and have long-term effects. In truth, it is much, much, much cheaper for the government if they catch these diseases early - so that they don't have to deal with any long-term effects.

So for this argument I submit that people who are aware of the testing and want the testing done can do the research and find a clinic or location near them to get it done. And those that don't can continue to have their babies the normal way. Free of government intervention.

All states already have some testing. If people are not aware of that, it is their ignorance. Meanwhile, do you know how many people would have the money to pay for something like this? Not many. I guess we should just let all the poor babies die?

It's not a difficult thing to do. And if someone wants to choose to have it happen, then they also choose to accept whatever the cost of that testing is, and however difficult it might be.

The courts have pretty much held that denial of medical treatment on anything other than religious grounds is child abuse.

Liskeinland

05-04-2005, 14:35

Note that only *known and easily treatable* disorders are screened for. Like an… easily treatable jaw defect? Yes, I am trying to stir things up.

SMALL EARTH

05-04-2005, 14:56

Which diseases are known "caused" by genes?

What role is played by said genes within the cell/body?

Why would evolution preserve such genes?

Isn't the largest burden of disease is caused by genes INTERACTING with environmental factors(ie. CHEMICALS)?

Aren't those chemicals actually being created by the same companies that pay for the research that show that genes 'cause' disease?

Why don't people in Europe and various other countries have the same disease patterns? Our genes came from Europe and those other countries right?

Dempublicents1

05-04-2005, 16:20

Which diseases are known "caused" by genes?

The diseases in question are metabolic disorders - the inability to properly metabolize certain factors (hence the reason that a restricted/supplemented diet keeps symptoms from occurring.

What role is played by said genes within the cell/body?

Answered above.

Why would evolution preserve such genes?

It doesn't. It only preserves the working versions of the genes. In a world without medicine, these kids would just die.

Isn't the largest burden of disease is caused by genes INTERACTING with environmental factors(ie. CHEMICALS)?

Yes, but not the particular diseases in question.

Why don't people in Europe and various other countries have the same disease patterns? Our genes came from Europe and those other countries right?

The diseases in question occur all over the world.

Dempublicents1

05-04-2005, 16:20

Like an… easily treatable jaw defect? Yes, I am trying to stir things up.

A jaw defect won't kill your or cause you to be severely retarded and never able to care for yourself though, now will it?

Note that only *with treatment* will the disease not outright kill the person. The screening is simply early detection so that the developmental defects and retardation do not occur.

Kryozerkia

05-04-2005, 16:29

Bottle

05-04-2005, 16:31

The courts have pretty much held that denial of medical treatment on anything other than religious grounds is child abuse.
does this strike anybody else as horribly unjust and twisted?

Dempublicents1

05-04-2005, 16:32

What would be the point of testing if the infant is healthy except for Kalman's Syndrome, which goes undetected in the early stages of life, if the testing would find nothing? It would be a waste of tax payer money.

What I'm saying is that, there are defects, such as this that can go undetected and prove screening to be pointless as pre-emptive medicine.

So, let me rephrase - You think we should let a lot of children die of or be maimed by diseases that we *can* find, simply because we cannot detect every single disease that might crop up?

Dempublicents1

05-04-2005, 16:37

does this strike anybody else as horribly unjust and twisted?

I'm torn on the whole idea. I think a competent adult should always be able to refuse treatment - for any reason (and the courts have generally held as such). I *do not*, however, think that this same right should be applied to parents and their children. A child may or may not ascribe to the parents' particular religion and often is not even old enough to competently make such a decision. Personally, I don't think that parents should be able to refuse necessary medical treatment for their children for any reason other than a belief that it is causing more *medical* harm than good. However, I can see the dangers of taking that route legally.

Here's an off-topic, but really horrible story. My advisor is an anesthesiologist for liver transplants. She worked on a case once in a young child - the child of Jehovah's Witnesses - needed a transplant. This was before the bulk of the court rulings on these issues. The parents were adamant that no blood transfusions be used during the procedure, as Jehovah's Witnesses believe that getting a blood transfusion is sinful. The doctors attempted the procedure without any transfusions (it can be done, if everything goes right), but had complications and gave the girl a transfusion to keep her alive. The parents told their daughter that she was going to hell and immediately put her up for adoption.

Bottle

05-04-2005, 16:40

I'm torn on the whole idea. I think a competent adult should always be able to refuse treatment - for any reason (and the courts have generally held as such). I *do not*, however, think that this same right should be applied to parents and their children. A child may or may not ascribe to the parents' particular religion and often is not even old enough to competently make such a decision. Personally, I don't think that parents should be able to refuse necessary medical treatment for their children for any reason other than a belief that it is causing more *medical* harm than good. However, I can see the dangers of taking that route legally.

Here's an off-topic, but really horrible story. My advisor is an anesthesiologist for liver transplants. She worked on a case once in a young child - the child of Jehovah's Witnesses - needed a transplant. This was before the bulk of the court rulings on these issues. The parents were adamant that no blood transfusions be used during the procedure, as Jehovah's Witnesses believe that getting a blood transfusion is sinful. The doctors attempted the procedure without any transfusions (it can be done, if everything goes right), but had complications and gave the girl a transfusion to keep her alive. The parents told their daughter that she was going to hell and immediately put her up for adoption.
the reason i find it so disgusting is that RELIGIOUS SUPERSTITION is the only grounds that can be used for such a parental decision. if parents have the right to deny medical treatment for their children then that right should not be granted or withheld based on the parents' willingness to believe in fairy tales...in this day and age, why on Earth are we using such a hideously ignorant standard?!

if a parent has the right to refuse medical treatment for their child then they should have that right regardless of whether they are doing it for secular or religious reasons; the idea that religious beliefs are somehow more important than secular ones is ludicrous and offensive, and certainly should not be promoted in such an unjust manner. if parents do not have the right to choose their children's care for secular reasons then they should not be given special powers simply because they claim their magical imaginary friend in the sky told them blood transfusions are wicked.

Dempublicents1

05-04-2005, 16:46

the reason i find it so disgusting is that RELIGIOUS SUPERSTITION is the only grounds that can be used for such a parental decision. if parents have the right to deny medical treatment for their children then that right should not be granted or withheld based on the parents' willingness to believe in fairy tales...in this day and age, why on Earth are we using such a hideously ignorant standard?!

if a parent has the right to refuse medical treatment for their child then they should have that right regardless of whether they are doing it for secular or religious reasons; the idea that religious beliefs are somehow more important than secular ones is ludicrous and offensive, and certainly should not be promoted in such an unjust manner. if parents do not have the right to choose their children's care for secular reasons then they should not be given special powers simply because they claim their magical imaginary friend in the sky told them blood transfusions are wicked.

Well, we have this thing called the 1st Amendment which specifically grants free practice of *religion*. Unfortunately, the couts have extended this free practice to include parents using it on their children, who may or may not agree with the religion in question.

Like I said, I think parents should have to justify their reasoning if they wish to refuse treatment to their children - and should have to show that the treatment itself is *objectively* causing more harm than good. Anything less is allowing a parent to harm their child - which is child abuse.

UpwardThrust

05-04-2005, 16:50

Bottle

05-04-2005, 16:50

Well, we have this thing called the 1st Amendment which specifically grants free practice of *religion*. Unfortunately, the couts have extended this free practice to include parents using it on their children, who may or may not agree with the religion in question.

Like I said, I think parents should have to justify their reasoning if they wish to refuse treatment to their children - and should have to show that the treatment itself is *objectively* causing more harm than good. Anything less is allowing a parent to harm their child - which is child abuse.
i have no problem with allowing freedom of religion, and if the law wants to grant parents the right to refuse treatment for children on religious grounds then that's fine...as long as parents are granted that same right for non-religious reasons. to claim that a parent's secular life-philosophy is somehow less significant or less deserving of legal respect than a religious life-philosphy is an insult to nearly 1/5th of the people in America, the roughly 17-20% of Americans who identify as secular/atheist/agnostic.

Bottle

05-04-2005, 16:50

While I find what the parents did distastefull I would rather have that little girl alive with alternitive parents then in the hands of parents like that
as would i. that illness may have carried a blessing along with it, in that it got that poor child away from such pathetic and selfish parents.

Dempublicents1

05-04-2005, 16:52

While I find what the parents did distastefull I would rather have that little girl alive with alternitive parents then in the hands of parents like that

Oh, so would I - I was just relating a particularly disturbing story that made me want to strangle people. =)

I really hope that little girl ended up in a wonderful family.

Dempublicents1

05-04-2005, 16:53

i have no problem with allowing freedom of religion, and if the law wants to grant parents the right to refuse treatment for children on religious grounds then that's fine...as long as parents are granted that same right for non-religious reasons. to claim that a parent's secular life-philosophy is somehow less significant or less deserving of legal respect than a religious life-philosphy is an insult to nearly 1/5th of the people in America, the roughly 17-20% of Americans who identify as secular/atheist/agnostic.

To be fair, I don't know of any secular philosophies that have "no medical treatment" as their core. I don't really know how they would be treated in the court system.

Edit: You have described (I think it was you) parents who refuse medical treatment for their children because they caused the disease in question. That is a secular reason, but should it be legally allowable?

UpwardThrust

05-04-2005, 16:54

To be fair, I don't know of any secular philosophies that have "no medical treatment" as their core. I don't really know how they would be treated in the court system.
but maybe it could be a disbelief in the peticular treatment

Dempublicents1

05-04-2005, 16:55

but maybe it could be a disbelief in the peticular treatment

Such parents would presumably be seeking other treatment options,then, would they not?

UpwardThrust

05-04-2005, 16:57

Such parents would presumably be seeking other treatment options,then, would they not?
While in some cases yes

But in other cases maybe (using your example modified) the parents disbelieved in the transplant itself ... there may be no long term "alternitive" treatment

Bottle

05-04-2005, 16:59

To be fair, I don't know of any secular philosophies that have "no medical treatment" as their core. I don't really know how they would be treated in the court system.

Edit: You have described (I think it was you) parents who refuse medical treatment for their children because they caused the disease in question. That is a secular reason, but should it be legally allowable?
i should probably stop hijacking the thread, shouldn't i?

well, just this little bit more, i suppose...

there are some people who believe in "Darwinism" or "naturalism" as secular concepts, people who believe that humans should allow nature to weed out the weak to preserve the strength of the species. now, i think that's stupid, but i also think the JWs you described were stupid...why should the JW's stupid beliefs by protected by the law, but not the stupid secular beliefs of self-described non-religious "Darwinists"? who's to say the religious beliefs are more valuable, or that the religious beliefs "mean more" to the believers? why discriminate?

Dempublicents1

05-04-2005, 17:02

While in some cases yes

But in other cases maybe (using your example modified) the parents disbelieved in the transplant itself ... there may be no long term "alternitive" treatment

By "disbelief", I will assume you mean that they do not agree with the procedure (don't think it is safe/useful/etc), as "belief" implies a religious or philosophical tone to it.

There are many treatments for liver failure. They may not be life-saving, but they are treatments and at least would keep the pain from being as bad as it could.

There is a big difference between making decisions between alternate treatments and withholding all treatment. However, if a great deal of medical professionals agreed that the transplant was absolutely necessary to save her life and that it would save her life, I would say such a decision would be bordering on abuse and the state should at the very least evaluate the parents to see if they were truly competent.

Dempublicents1

05-04-2005, 17:06

i should probably stop hijacking the thread, shouldn't i?

It's ok, most of the discussion was from people who misunderstood the first post anyways. Everyone seems to want to talk about Gattaca, rather than whether or not this is something that should be covered by tax dollars.

there are some people who believe in "Darwinism" or "naturalism" as secular concepts, people who believe that humans should allow nature to weed out the weak to preserve the strength of the species. now, i think that's stupid, but i also think the JWs you described were stupid...why should the JW's stupid beliefs by protected by the law, but not the stupid secular beliefs of self-described non-religious "Darwinists"? who's to say the religious beliefs are more valuable, or that the religious beliefs "mean more" to the believers? why discriminate?

Personally, I don't think *either* is a good enough reason to allow a parent to deny treatment to their child. Both are religions or philosophies that the child may or many not agree with.

UpwardThrust

05-04-2005, 17:12

It's ok, most of the discussion was from people who misunderstood the first post anyways. Everyone seems to want to talk about Gattaca, rather than whether or not this is something that should be covered by tax dollars.

Personally, I don't think *either* is a good enough reason to allow a parent to deny treatment to their child. Both are religions or philosophies that the child may or many not agree with.
Created new thread (with poll) :D for it ... seemed like an intresting discussion

Autocraticama

05-04-2005, 17:21

Actually I do belive that the movie The Butterfly Effect that you are relating here was based off of a much older philosophy called the Chaos Theory. Thought I'd throw that in since you've used it wrong.

As for debunking the argument. If we were all to take your stance on things we would all go and be completely isolated and die so that we wouldn't inadverntatly affect someone else. Face it, our actions will affect others, I think I would personally be very appriciative if someone was trying to help me with something that needs to be done that I cannot do, even if they might cause other problems.

We all need to realize that we're in this crap together, and help one another.

THe term butterfly effect was coined after the Isaac Asimov Short story "A sound of Thunder" in whish hunters go back in time to hunt dinosaurs and are wanted not to go off a path, kill anything not supposed to be killed etc......one man goes off the path and steps on a butterfly.....thus changing the future forever....

Dempublicents1

05-04-2005, 17:30

I don't agree with crawling into caves and letting people die from cuts and scrapings, but from everything I've heard Diabetes, and Cancer, and other life threatening diseases are powerful experiances that change peoples perceptions on the world. You're taking that experiance away from them. I myself have suffered greatly in my life, but I wouldn't trade my experiances at all. Some of them were avoidable - some of them were not. But at the end of someones life, all they have left is the sum of their experiances, good or bad. And I think that makes a differance as to who they are. You would take all that away from them.

I must admit, I find the idea of allowing unnecessary extreme suffering when there is something you can directly do to ease it because it is "an experience" absolutely disgusting. It is like the "saint" Mother Theresa absolutely refusing to give dying children painkillers because the pain would "bring them closer to Christ." It's basically bullshit. Anyone who stands by and watches someone else suffer (especially a child) when there is somethign they can do because it is "an experience", in my eyes, deserves to be shot.

SMALL EARTH

06-04-2005, 15:23

The diseases in question are metabolic disorders - the inability to properly metabolize certain factors (hence the reason that a restricted/supplemented diet keeps symptoms from occurring.
Dem,

Yes I understand this fact. As an immutable effect of the phenomenon you point out this would also APLY to the some 11,000 man-made chemicals that we are routinely exposed to thru diet and other means.

It doesn't. It only preserves the working versions of the genes. In a world without medicine, these kids would just die. Yes I understand that you THINK so, but like I essentially asked: HOW could those genes have made it through several MILLION years of children surviving to reproductive age? You do see that it is a FACT that every living person today is desendent from a CHILD that survived childhood since the begining of LIFE on earth?

Yes, but not the particular diseases in question. Then you need to be specific as to which diseases you are refering to, as genes account for around 10 percent of known cancers, such as breast and prostate.

The diseases in question occur all over the world.Yes of course for some countries but in other areas on earth the major killers in the US are non-existent. You are correct however, that in other industrialized countries the disease "occur", but you miss the point that they do NOT occur same RATE as here. Hence genes are not the ONLY factor. In most cases LIFESTYLE can be seen as a BIGGER factor. LIFESTYLE is about choices, and the choices available to many IMPLICATE some of the largest industries in history in "selling" less than perfect health.

Ken

Neo-Anarchists

06-04-2005, 15:44

Dempublicents1

06-04-2005, 16:02

Yes I understand that you THINK so, but like I essentially asked: HOW could those genes have made it through several MILLION years of children surviving to reproductive age? You do see that it is a FACT that every living person today is desendent from a CHILD that survived childhood since the begining of LIFE on earth?

I think you need to freshen up on your biology. You get two copies of every gene. For the defect to show up, you would need two copies of the defective gene. As such, it would easily be passed through carriers.

There is also the fact that many diseases are caused by random mutations, not genes that were passed on from the parents.

Then you need to be specific as to which diseases you are refering to, as genes account for around 10 percent of known cancers, such as breast and prostate.

I have been very specific, by stating that I am only referring to metabolic genetic diseases which are known and treatable. Meanwhile, genetic mutations account for *all* cancer. Genes you are born with account for a predisposition towards certain types of cancer.

Yes of course for some countries but in other areas on earth the major killers in the US are non-existent. You are correct however, that in other industrialized countries the disease "occur", but you miss the point that they do NOT occur same RATE as here. Hence genes are not the ONLY factor. In most cases LIFESTYLE can be seen as a BIGGER factor. LIFESTYLE is about choices, and the choices available to many IMPLICATE some of the largest industries in history in "selling" less than perfect health.

If you are going to make this argument, you will have to provide evidence that these treatable metabolic disorders occur at much lower rates in other countries.

Scouserlande

06-04-2005, 16:06

*snip*

Most genetic diseases can be treated by good diet.

um...... no

I know your thinking of type two diabetes, and that is not genetic, frankly theres no other genetic disease i know of that can be treated by a 'good diet'.

Also go watch the movie gattaca and tell me you would like to have eveyones dna on file.

Your poll options are ridiculas, theres no its not ethical option just.

less taxes more taxes

SMALL EARTH

06-04-2005, 16:40

Recessive genes, mutations, etc. Bad genes can and do survive.

Neo,

Yes I'm familiar with modern evolutionary theories, but also introgressive hybridization, horizontal gene transfer, punctuated equilibria etc.(none of which have yet fully informed medicine) .

Consider that we are talking SPECIFICALLY about diseases in which the hosts would have died BEFORE their genes carried forward. This is not to mention we are also considering a SEXUAL reproductive model over MILLIONS of generations: WEAK mating with weak, strong with strong-

But this doesn't really have anything to do with anything, since we already know that there are genes that when missing or corrupted cause/increase the risk of certain illnesses, diseases, or disorders.Yes you mean like BRCA-1, BRCA-2? They account for 5-10% of breast cancer! It's role? They 'look' for encoding errors... Well 100,000 years ago how many agents could CAUSE DNA errors? That is FAR different today...

I think Dem's trying to suggest diseases like Leukodystrophy are PURELY genetic and there's no basis for such an ASSUMPTION.

It's not some conjecture on the part of Dem here, it's been studied. Yes this is ALL just conjecture(a paradigm actually) and if you have studied medical history you should be well aware of the twists and turns science always takes on its way to the TRUTH. I'm not saying genes are innocuous BTW.

If you decide you need information on it, look around here:
http://gslc.genetics.utah.edu/units/disorders/Thank you!

How do Mutations Occur?
http://gslc.genetics.utah.edu/units/disorders/sloozeworm/

I'm curious, what do you about nuclear transcription factorslike NF kappa beta?

Ken

Dempublicents1

06-04-2005, 17:09

Most genetic diseases can be treated by good diet.

um...... no

I didn't say that - perhaps an English class would be good for you?

What I said was that there are genetic metabolic disorders which *can* be treated by a *restricted* died. An example is PKU, in which a person cannot metabolize phenylalanine. If they simply don't eat things with phenylalanine, but increase their consumption of tyrosine, they are fine. If they don't, they end up severely retarded or dead.

I know your thinking of type two diabetes, and that is not genetic, frankly theres no other genetic disease i know of that can be treated by a 'good diet'.

(a) I never mentioned diabetes, nor was I thinking about it. Of course, type II diabetes wouldn't affect infants anyways.

(b) There are many metabolic genetic diseases which can be treated by a *restricted* or *supplemented* diet. I never mentioned a *good* diet. Meanwhile, whether you have heard of them or not, they exist, and just about every state tests for somewhere around 10 of them.

Also go watch the movie gattaca and tell me you would like to have eveyones dna on file.

Who said anything about DNA on file? There is no DNA testing here unless there is a disorder present. This is testing of the blood for metabolic products.

Your poll options are ridiculas, theres no its not ethical option just.

What you meant to say was, "I don't get your poll options, because I don't have a clue what I am talking about and didn't bother to read your post."

Dempublicents1

06-04-2005, 17:15

Consider that we are talking SPECIFICALLY about diseases in which the hosts would have died BEFORE their genes carried forward. This is not to mention we are also considering a SEXUAL reproductive model over MILLIONS of generations: WEAK mating with weak, strong with strong-

...which only would have happened if they had *two* copies of a defective gene. There would be no symptoms at all if they only had one.

Well 100,000 years ago how many agents could CAUSE DNA errors?

I'm pretty sure we had sunlight and oxygen 100,000 years ago, not to mention the purely random errors that occur naturally.

I think Dem's trying to suggest diseases like Leukodystrophy are PURELY genetic and there's no basis for such an ASSUMPTION.

I didn't say anythint aboug leukodystrophy. I am speaking of metabolic disorders, such as PKU, galactosemia, tyrosinemia, etc.

If you are confused or unaware of what I am talking about, you should ask, not make silly assumptions when I was very clear that I was speaking about a small subset of possible genetic diseases.

Yes this is ALL just conjecture(a paradigm actually) and if you have studied medical history you should be well aware of the twists and turns science always takes on its way to the TRUTH. I'm not saying genes are innocuous BTW.

If it is all just conjecture, why do states have mandatory newborn screening for these things? Unless, of course, you are using "conjecture" like most people use "theory" - to describe all of science?

Dempublicents1

06-04-2005, 17:47

Before any more discussion occurs, people need to look up the following words:

known
treatable
metabolic

If you do not know the meanings of these words, and don't want to look them up, feel free to ask.

Dempublicents1

06-04-2005, 19:52

personally i would not mind helping to pay for such screening, but i believe it would be wrong to use taxes to do so. of course, i think that about 90% of what our taxes already go to is unjust, so i'm probably the wrong person to be asking about raising taxes...:)

Now, *this* was more the debate I was going for (although I did want to clue people in on the fact that such screeing was possibe. Little did I know that people can't separate science fiction from actual science).

So, what do you think it is ok for taxes to pay for? Why is it not ok, especially if it is voted upon, to use taxes to screen infants for perfectly treatable disorders? Is it equally not ok to use tax dollars to prevent children from getting hit by cars on the street? ((don't see this as an attack, I'm looking for debate here))

Bottle

06-04-2005, 19:56

Now, *this* was more the debate I was going for (although I did want to clue people in on the fact that such screeing was possibe. Little did I know that people can't separate science fiction from actual science).

i know the feeling...:(

So, what do you think it is ok for taxes to pay for? Why is it not ok, especially if it is voted upon, to use taxes to screen infants for perfectly treatable disorders? Is it equally not ok to use tax dollars to prevent children from getting hit by cars on the street? ((don't see this as an attack, I'm looking for debate here))
i believe government is only responsible for maintaining the rights of citizens; basically, the job of the government (and therefore the use of taxes) should be restricted to ensuring that no individual citizen directly interferes with the freedoms of another citizen. it's the "your right to swing your fist ends at the tip of my nose" philosophy. i don't believe it is the government's job to ensure any particular quality of life for citizens, nor should the government be responsible for health care or welfare.

thus, i don't believe that tax dollars should be employed for the sort of testing you describe. i would personally be more than willing to donate my money to a charity that funded such testing, and i would encourage the clinic i volunteer at to offer such testing on a sliding scale for people who have trouble paying, but i don't believe it would be just to include such things in taxes.

of course, our taxes already pay for much more ridiculous things right now, so it seems petty to refuse to add such a worthy item to our bill...why don't we give up just one of those pretty new jet planes the military is building, and provide screening for every child in America?

Dempublicents1

06-04-2005, 21:03

i believe government is only responsible for maintaining the rights of citizens; basically, the job of the government (and therefore the use of taxes) should be restricted to ensuring that no individual citizen directly interferes with the freedoms of another citizen. it's the "your right to swing your fist ends at the tip of my nose" philosophy. i don't believe it is the government's job to ensure any particular quality of life for citizens, nor should the government be responsible for health care or welfare.

Aren't the powers of the government given by the people? As such, would it not be ok for the people to give it the power to ensure a minimum quality of life and health care?

Is it in the government's best interest to keep children from having diseases that their parents cannot pay for, so that the children do not end up in state custody? Or is state custody of children also a problem? If so, what do we do with children when there is no one to take care of them?

of course, our taxes already pay for much more ridiculous things right now, so it seems petty to refuse to add such a worthy item to our bill...why don't we give up just one of those pretty new jet planes the military is building, and provide screening for every child in America?

I certainly can't argue with that. Of course, I also argued that we should have one less plane and give body armor to every soldier in Iraq (which, by the way, works out in the finances).

Duranomar

06-04-2005, 21:16

I am actualy in "Genetics and Human Affairs" at my university right now. I fully agree with mandatory testing for genetic disorders (So that problems such as metabolic disorders can be provided for, and so that a person will know when he or she grows up, and be able to make an informed decision about weather or not to have children themselves) and mandatory vaccinations.

SMALL EARTH

06-04-2005, 22:12

...which only would have happened if they had *two* copies of a defective gene. There would be no symptoms at all if they only had one.

Dem,

It seems I may have offended you, which was not my intent. I just wanted to have a conversation with you. I'm sorry for agitating you.

Please consider that in diseases that mitigate against survival to reproductive age, an offspring with 2 COPIES wouldn't be able to MATE with another person to create a hybrid with one copy. But I agree that genes have a role in disease and there are autosomal recessive inheritence patterns but there again these ideas tend to deny a deeper look at those 'somethings' which may have caused the genetic changes/instabilities in the first place.

I'm pretty sure we had sunlight and oxygen 100,000 years ago, not to mention the purely random errors that occur naturally. EXACTLY! AS such our genome has age old protections from oxidative stress and radiation. However when these are over used, or when the necessary dietary derived factors are not replete- DNA damage occurs. For example most plants have an extra half a billion years EXPOSURE to UV rays and oxygen and have very elaborate secondary plant metabolites with fight both. Thus the fewer plants one eats the worse off one is as compared to ones long genetic lineage.

So the real question becomes: How much of the chemical environment that our genes have survived in for the last million generations is around today? I'm not willing to place all the weight on genes alone considering the tremendous multitude of chemicals that are known or suspected genotoxins.

I'm curious, what do you know about DNA methylation? Also have you ever considered that DNA(deoxyribonucleic acid) is NOT a 'living' thing. It is merely a chemical. (BTW you can't make DNA without folate but you can make genes make ERRORS without folate) Folate deficiency causes uracil misincorporation into human DNA and chromosome breakagehttp://www.pnas.org/cgi/content/full/94/7/3290?

I didn't say anythint aboug leukodystrophy. I am speaking of metabolic disorders, such as PKU, galactosemia, tyrosinemia, etc. Well actually you did in a general sense since leukodystrophy is considered a metabolic disorder. I assure you I se your point but you are taking it too far it would seem.

If you are confused or unaware of what I am talking about, you should ask, not make silly assumptions when I was very clear that I was speaking about a small subset of possible genetic diseases.AS far as I can tell I'm not confused or unaware of what you are speaking about. However genes and disease are not as cut and dried as you are trying to make it seem.

If it is all just conjecture, why do states have mandatory newborn screening for these things? There is a public health burder as a direct result of these diseases, but one should NOT confuse that with the idea that genes CAUSE disease. If you and I own the same car made on the same day at the same factory and I drive around at 90 MPH all the time and use the cheapest filters, fuels and oils is it really the DESIGN that at fault when my car breaks?

Unless, of course, you are using "conjecture" like most people use "theory" - to describe all of science?Conjecture means to infer from INCOMPLETE knowledge- I'd have to say that all manner of scientific data is incomplete in the sense that it is ever expanding. That said if you'd be so kind might you share with us all something that the scientific method has found to be TRUE for more than 3 generations.

Ken

PS. What is gravity and has sub-atomic particle physics ever informed medical research?

Moppie

06-04-2005, 22:21

I'm perfectly happy for the parents of the infants to pay for this...but why should I have to pay to support other people's children?

SMALL EARTH

06-04-2005, 22:23

Health insurance doesn't pay for this?

Dempublicents1

06-04-2005, 22:37

It seems I may have offended you, which was not my intent. I just wanted to have a conversation with you. I'm sorry for agitating you.

Not in the least - I'm pretty difficult to offend. It is just that you are taking the conversation well beyond the scope of the particular diseases in question.

Please consider that in diseases that mitigate against survival to reproductive age, an offspring with 2 COPIES wouldn't be able to MATE with another person to create a hybrid with one copy.

No, but a person with one copy would. Or two people, each with one copy.

But I agree that genes have a role in disease and there are autosomal recessive inheritence patterns but there again these ideas tend to deny a deeper look at those 'somethings' which may have caused the genetic changes/instabilities in the first place.

Considering that we know these changes exist, whether or not to give treatment really shouldn't depend on whether or not we know the exact cause. We don't know exactly when or where the sickle cell mutation arose, but that doesn't keep us from treating those who are homozygous for the mutation.

EXACTLY! AS such our genome has age old protections from oxidative stress and radiation.

...which sometimes fail.

However when these are over used, or when the necessary dietary derived factors are not replete- DNA damage occurs.

Even with the protections, DNA damage occurs *constantly*. Luckily, we have mechanisms to protect against proliferation of cells with large amounts of damage, unless of course, the damage occurs in a "proofreader" gene.

So the real question becomes: How much of the chemical environment that our genes have survived in for the last million generations is around today? I'm not willing to place all the weight on genes alone considering the tremendous multitude of chemicals that are known or suspected genotoxins.

If a person with a specific mutation has a disease, and someone with the same lifestyle *without* the mutation does not, is it not logical to say that the gene is causing it? When we replace the function of the gene, and the symptoms go away, is it not logical to say that we have supported that idea?

I'm curious, what do you know about DNA methylation?[/quote

the basics.

[QUOTE=SMALL EARTH]Also have you ever considered that DNA(deoxyribonucleic acid) is NOT a 'living' thing.

Yup.

Well actually you did in a general sense since leukodystrophy is considered a metabolic disorder. I assure you I se your point but you are taking it too far it would seem.

I never said that *all* metabolic disorders are genetic disorders or that *all* genetic disorders are metabolic disorders. I simply pointed out that there is a *known* list of metabolic disorders which we know how to treat. However, if we don't catch them within the first few days of life, the damage is already done and we cannot reverse the effects. As such, I personally think we should test for all of them, not just a select few - as most states do.

AS far as I can tell I'm not confused or unaware of what you are speaking about. However genes and disease are not as cut and dried as you are trying to make it seem.

Some genes and some disease really are that clear-cut. It is unrelated to the exact topic, but sickle cell anemia *is* caused by a case in which someone is homozygous for a single-point mutation in the gene for hemoglobin. It is really that simple. There are other diseases like that.

You are correct that most "genetic diseases" are multifactorial, and that both genetic predisposition and environmental factors are a part of the problem. However, I am not talking about most genetic diseases. I am only referring to a very specific known and treatable subset.

There is a public health burder as a direct result of these diseases, but one should NOT confuse that with the idea that genes CAUSE disease.

I didn't say that genes cause disease. I said that genetic disorders cause disease.

If you and I own the same car made on the same day at the same factory and I drive around at 90 MPH all the time and use the cheapest filters, fuels and oils is it really the DESIGN that at fault when my car breaks?

However, in these cases, we are not talking about having the same car. In this case, one of us would have a car that is already broken when it comes off the line, while the other has one that was made up to spec.

That said if you'd be so kind might you share with us all something that the scientific method has found to be TRUE for more than 3 generations.

The scientific method finds nothing to be TRUE.

PS. What is gravity and has sub-atomic particle physics ever informed medical research?

Gravity - yes.

Sub-atomic physics - yes.

Bottle

06-04-2005, 23:23

Aren't the powers of the government given by the people? As such, would it not be ok for the people to give it the power to ensure a minimum quality of life and health care?

i do not believe "the people" would universally agree to that, and i don't believe the majority should be allowed to make decisions of that sort on behalf of all people. i believe there are some things the government simply should not do. if the majority of people feel this is a worthwhile thing to pay for, they can choose to donate their money to this cause...they cannot, in my opinion, donate other peoples' money. but that's in my ideal system; obviously, in our current system, "the people" have the power to make that choice.

Is it in the government's best interest to keep children from having diseases that their parents cannot pay for, so that the children do not end up in state custody? Or is state custody of children also a problem? If so, what do we do with children when there is no one to take care of them?

as i have said, i don't believe the government has any business involving itself in such things, because i define the role of the government very narrowly. whether or not the government would some how have an interest in such things is irrelevant, to me. the care of children whose parents fail in their duties is not the government's responsibility, in my opinion, and thus is a totally separate issue.

I certainly can't argue with that. Of course, I also argued that we should have one less plane and give body armor to every soldier in Iraq (which, by the way, works out in the finances).
yup, we're on the same page on that front.

Dempublicents1

07-04-2005, 00:39

i do not believe "the people" would universally agree to that, and i don't believe the majority should be allowed to make decisions of that sort on behalf of all people. i believe there are some things the government simply should not do. if the majority of people feel this is a worthwhile thing to pay for, they can choose to donate their money to this cause...they cannot, in my opinion, donate other peoples' money. but that's in my ideal system; obviously, in our current system, "the people" have the power to make that choice.

I can respect that. I won't say I agree, but I can certainly respect that.

Out of curiosity, in your system, is regulation of medicine part of the responsibility of the government?

Bottle

07-04-2005, 01:08

I can respect that. I won't say I agree, but I can certainly respect that.

sometimes i don't agree with it, to be honest...i waffle a little on these issues. my rational mind believes in a very restricted role for government, with no exceptions, but my emotional mind wants to force my fellow citizens to spend their money on better things than fast cars and flat screen TVs. part of me wants to tax the shit out of people because i think i can spend their money better than they can. i want to take the money they would spend on a DVD player and use it to save a child's life. i want to take the money they blow on gas for their SUV and use it to develop new cancer therapies. i want to take the money they spend on all their pairs of $500 jeans and use it to build libraries. but i can't let myself be that kind of hypocrite, no matter how tempting it might seem at times.

Out of curiosity, in your system, is regulation of medicine part of the responsibility of the government?
in terms of fraud and malpractice, yes. fraud would still be a crime, and quack medicine (both by practitioners and in terms of medications) would fall under that category. people would be free to purchase unsafe medications if they wanted to, and all drugs would be totally legal (unlike our "schedule" system right now), but the drugs would have to be clearly and explicitly labeled with honest information about their content and purity. this is the same thing that would apply to processed foods; you've gotta stick a label on it so people know what they are buying, and you aren't allowed to lie on the label. provided you do that, it is up to the consumer to decide whether or not they want to buy it, ingest it, feed it to their kid, etc.

Schrandtopia

07-04-2005, 01:18

am I correct in my assumption that by "screening" you mean killing?

Mystic Mindinao

07-04-2005, 01:20

Why the heck not? It is mostly just a few more cents.

Schrandtopia

07-04-2005, 01:29

Why the heck not? It is mostly just a few more cents.

cause you know, its a human life

and if we deam disabled people less valid forms of life why not kill them only in eutero?

Dempublicents1

07-04-2005, 02:45

am I correct in my assumption that by "screening" you mean killing?

No, not in the least. By "screening", I mean "checking the blood for improper balances of metabolites in order to quickly diagnose and begin treating diseases so that children do not die or develop horrible developmental defects."

I would appreciate it if you would actually bother to read at least the first post before answering a question, by the way.

Whispering Legs

07-04-2005, 03:30

Dempublicents1

07-04-2005, 03:48

Whispering Legs

07-04-2005, 03:53

That's nice, but it is not what we are discussing.

Meanwhile, most parents can't even pay for basic medicine without supplements. Very few could afford to pay for the type of screening I *am* talking about, and, were it even possible, very few could pay for the types of things you are talking about.

I hear that the genetic screening you're talking about is going to be more affordable over the next few years.

I've heard that right now, you can get your own genome mapped for a few million dollars, but private companies are targeting to bring this to you for a few hundred dollars in just a couple of years.

Not just a partial screening - the whole "you" on a platter for a few hundred dollars.

So you would not only know that your child had the potential (or you had the potential) for diabetes, but you would know why you had a certain hair color, etc.

The companies involved in this sort of research know that a) you have to get the cost into an area that a market can form around, and b) people will pay for the most ridiculous cosmetic tests imaginable.

Making the government pay for poor people to get some basic screening would only be fair - otherwise, they risk becoming a permanent genetic underclass in a single generation.

SMALL EARTH

07-04-2005, 04:35

Not in the least - I'm pretty difficult to offend. It is just that you are taking the conversation well beyond the scope of the particular diseases in question.

Dem,

Yes offend would be a strong word. I'm sorry that I moved the conversation away from your intention. I was merely curious about what it was you were really asking.

No, but a person with one copy would. Or two people, each with one copy. Yes but where did that one copy come from? How do you explain that it exists? Where's the science for said explanation?

Considering that we know these changes exist, whether or not to give treatment really shouldn't depend on whether or not we know the exact cause. I never debated TREATMENT, however if there is a PREVENTABLE cause we are throwing public money away by only focusing on treatment.

We don't know exactly when or where the sickle cell mutation arose, but that doesn't keep us from treating those who are homozygous for the mutation. Well if every morning you had a flat tire, would you simply keep changing it instead of sweeping up the nails? Science could find the answer if it wanted to.

...which sometimes fail. Yes I know and I'm the one suggesting that science needs to FIND out why our oxidative protections fail more each generation to curtail the burden of disease. You're saying: Heck we all know fires' "just happen" so let's simply wait until someone has a fire to do anything.

Even with the protections, DNA damage occurs *constantly*. Yes but again you are already looking at a system OUTSIDE of its natural evolutionary context. The amount of oxidative stress today is OFF the chart especially for certain demographics, in particular the stress caused by CHEMICALS and their metabolites.

Luckily, we have mechanisms to protect against proliferation of cells with large amounts of damage, unless of course, the damage occurs in a "proofreader" gene.Well yes but there again we are looking at a baseline that the environment also has a role in. Genes do not exist independently of environment. Remember there are environmental factor involved with DNA methylation and histone deacetylation. Consider closely that there's evidence that epigenetic gene silencing evolved as a host-defense system.

If a person with a specific mutation has a disease, and someone with the same lifestyle *without* the mutation does not, is it not logical to say that the gene is causing it? Yes and NO- In the absense of knowledge as to what caused the MUTATION we can't technically say that the gene CAUSED the disease- Ultimately whatever mutated the gene caused the disease. Therein is the danger in your assertions- It stop the process for looking for what's CAUSING the mutations. But yes one MIGHT see value in what you are saying.

I never said that *all* metabolic disorders are genetic disorders or that *all* genetic disorders are metabolic disorders. I simply pointed out that there is a *known* list of metabolic disorders which we know how to treat. Yes but you are also reinforcing the untrue idea that genes are the ULTIMATE cause of these diseases.

However, if we don't catch them within the first few days of life, the damage is already done and we cannot reverse the effects. As such, I personally think we should test for all of them, not just a select few - as most states do. What is the total burden of these diseases on society? I mean in those that are not tested...

Some genes and some disease really are that clear-cut. It is unrelated to the exact topic, but sickle cell anemia *is* caused by a case in which someone is homozygous for a single-point mutation in the gene for hemoglobin. It is really that simple. There are other diseases like that. Actually you are incorrect: "Sickle hemoglobin is the product of one mutated gene, but the disease phenotype is the product of many genes. Polymorphism among the genes responsible for the pleotropic effects can be epistatic genes contributing to interindividual variation that characterizes sickle cell anemia patients." [Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia.
Pediatr Pathol Mol Med, March 1, 2001; 20(2): 123-36]

You are correct that most "genetic diseases" are multifactorial, and that both genetic predisposition and environmental factors are a part of the problem. However, I am not talking about most genetic diseases. I am only referring to a very specific known and treatable subset. Yes I know, however typically people generalize your point into a simple idea that "genes cause disease" and IMO that is a dangerous thought.

I didn't say that genes cause disease. I said that genetic disorders cause disease.Well I have seen quite clearly a reluctance to accept the possiblity that there are factors that alter genes BEFORE the cause disorders. Hence it seems that you think that GENES cause disease.

However, in these cases, we are not talking about having the same car. In this case, one of us would have a car that is already broken when it comes off the line, while the other has one that was made up to spec.
Yes I know you THINK so, but this could also be explained because the hypothesis you have accepted doesn't allow for variablity in the cause of MUTATIONS. It would seem that you are holding the mutations as NORMAL.

Gravity - yes. No I asked WHAT IS GRAVITY?

Sub-atomic physics - yes. QUANTUM PHYSICS hasn't informed medical thought in any way, nor has evolutionary theory or for that matter nutritional biochemistry. Doctors understand nutrition at the level of what was knwo in 1935 or so.

Back to you my intelligent and well read friend...

Ken

Vynnland

07-04-2005, 04:43

The poll option I would have liked is not listed. I would have picked something like, "Slash money from stupid budged items (like pork barreling) and put that towards extended infant testing."

Dempublicents1

07-04-2005, 05:32

Yes but where did that one copy come from? How do you explain that it exists? Where's the science for said explanation?

Mutation. There is scientific evidence for a natural rate of mutation, with or without man-made chemicals.

I never debated TREATMENT, however if there is a PREVENTABLE cause we are throwing public money away by only focusing on treatment.

50% of all known pregnancies end in miscarriage. Roughly 30% of these are due to gross chromosomal errors (trisomy, monosomy, etc.). ((I know I should provide a source, but these come from a class)) While it may be true that a number of these are caused by something preventable, it is unlikely that the majority of them are, our diet, etc. just hasn't changed that much in recent times.

Meanwhile, if you find the cause of what appears to be random genetic mutations, you'll probably get the Nobel Prize. It is not something that isn't being researched, but we aren't there yet, and I don't think we should shirk on treatment in the meantime.

Well if every morning you had a flat tire, would you simply keep changing it instead of sweeping up the nails? Science could find the answer if it wanted to.

You assume that there is an asnwer beyond the fact that mutations occur. If you accept the theory of evolution, you know that mutations occur.

Yes I know and I'm the one suggesting that science needs to FIND out why our oxidative protections fail more each generation to curtail the burden of disease.

What makes you think they do? It is very possible, considering that we have ample evidence to state that oxidative protections fail as one gets older, that the increasing age of the population is causing much of the increase in disease.

Yes but again you are already looking at a system OUTSIDE of its natural evolutionary context. The amount of oxidative stress today is OFF the chart especially for certain demographics, in particular the stress caused by CHEMICALS and their metabolites.

Only some of which we can currently change.

Yes and NO- In the absense of knowledge as to what caused the MUTATION we can't technically say that the gene CAUSED the disease- Ultimately whatever mutated the gene caused the disease. Therein is the danger in your assertions- It stop the process for looking for what's CAUSING the mutations. But yes one MIGHT see value in what you are saying.

It doesn't stop us from looking at the cause at all. However, once it is caused, there is need for screening and treatment.

If a lot of people were coming into a hospital with broken legs, our first priority would be to treat them. We would also try and figure out why so many people were getting broken legs. If we found the source and it was, say, an icy sidewalk, we would then try to get rid of the ice.

But be careful not to suggest that *all* genetic disease is caused by man-made environmental factors.

What is the total burden of these diseases on society? I mean in those that are not tested...

The ultimate percentages are rather small.

Actually you are incorrect: "Sickle hemoglobin is the product of one mutated gene, but the disease phenotype is the product of many genes. Polymorphism among the genes responsible for the pleotropic effects can be epistatic genes contributing to interindividual variation that characterizes sickle cell anemia patients." [Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia.
Pediatr Pathol Mol Med, March 1, 2001; 20(2): 123-36]

Note that they speak of differences in phenotype. The sickle cell phenotype (from which most of the symptoms are derived and which is the only *unifying* factor) is caused by a single mutation. Other mutations can make the symptoms worse - hence the reason that some cases need constant blood transfusions and others simply have pain crises every once and a while.

Well I have seen quite clearly a reluctance to accept the possiblity that there are factors that alter genes BEFORE the cause disorders. Hence it seems that you think that GENES cause disease.

I have no problem with accepting the possibility that something may cause the mutation. However, without the knowledge of what causes the mutation, we can only prevent the symptoms.

Yes I know you THINK so, but this could also be explained because the hypothesis you have accepted doesn't allow for variablity in the cause of MUTATIONS. It would seem that you are holding the mutations as NORMAL.

Some mutations are normal. Others are not.

No I asked WHAT IS GRAVITY?

I believe you asked if medical science has been informed by gravity, but ok.

QUANTUM PHYSICS hasn't informed medical thought in any way, nor has evolutionary theory or for that matter nutritional biochemistry.

A great deal of medical technology employs quantum physics. MRI being one obvious case, and the newer interest in quantum dots as possible diagnostic and treatment devices brings us into the cutting edge.

Dempublicents1

07-04-2005, 05:32

The poll option I would have liked is not listed. I would have picked something like, "Slash money from stupid budged items (like pork barreling) and put that towards extended infant testing."

Yeah, I should have included that one. Problem is, I know there's no way it would happen.

Rysonia

07-04-2005, 05:39

The poll option of take money from other government spending (like that really exquisit outhouse the government built to surround a lowely hole in the ground, can you believe imported tile for an outhouse!) wasn't listed, but that would be my choice. Of course the government doesn't exactly inform us where are money goes anyways, at least not here in the Us. They just put it wherever they blasted well please (generally their pockets). Sorry I'm ranting.

SMALL EARTH

07-04-2005, 16:07

Dem,

Thank for your reply, I hope you find my posts as thought provoking as I find yours.

Mutation. There is scientific evidence for a natural rate of mutation, with or without man-made chemicals.

Yes but that evidence assumes several factors and much of current population genetics and evolution theory depends on knowledge of genomic mutation rates and distributions of mutation effects for fitness, but most information comes from a few mutation accumulation experiments in Drosophila. As we have previously discussed there are mechanisms that have several million years of "practice" watching for somatic mutations (ie. DNA mismatch repair system). In the absence of an intact mismatch repair system, cells accumulate mutations at a rate some 1000 times faster than normal cells.

However it is ENVIRONMENTAL factors that mostly contribute to mismatch repair deficiency.

For me it is an odd assertion to hold that MODERN mutation rates as comparable to the rates under which the many protective mechanisms evolved in the first place.

50% of all known pregnancies end in miscarriage. Roughly 30% of these are due to gross chromosomal errors (trisomy, monosomy, etc.). ((I know I should provide a source, but these come from a class))I'm curious why then didn't human adapt in the various ways other species have when the odd of offspring reaching reproductive age is LOW? You see this idea that it's NATURAL for 50% of pregnancies to terminate cannot stand up to EVOLUTIONARY BIOLOGY. You understand why fish lay so many eggs right?
We would have evolved a better system to INCREASE reproductive fitness. 50% is better seen as a RECENT alteration in a natural system...

While it may be true that a number of these are caused by something preventable, it is unlikely that the majority of them are, our diet, etc. just hasn't changed that much in recent times. Your ASSUMPTIONS may be able to be supported with data, however the larger trend in the data goes against you.

Meanwhile, if you find the cause of what appears to be random genetic mutations, you'll probably get the Nobel Prize. It is not something that isn't being researched, but we aren't there yet, and I don't think we should shirk on treatment in the meantime. I'll say AGAIN I'm not disavowing treatment, but it borders on malfeasance to not be looking at ALL possible sources of MUTATION. To accept the idea of RANDOM is to accept the level of empirical science as fact from the 1900's.

You assume that there is an asnwer beyond the fact that mutations occur. If you accept the theory of evolution, you know that mutations occur.If you accept any hypothetical framework you will NEVER find "what is". Evolution as stated back in the late 1800's was wrong on many levels! A better view of evolution as that there are FEEDBACK loops from the environment to genes that account for change and intelligent adaptation. Random MUTATION is over 100 years old and outdated.

What makes you think they do? It is very possible, considering that we have ample evidence to state that oxidative protections fail as one gets older, that the increasing age of the population is causing much of the increase in disease.Simple really- In order for us to have this conversation, the 'life' that is conveyed in our genes must have been in a living thing and carried forward since the beginning of life on earth. We (our genes) survived that arduous journey.

Thus for example, the factors that cause reactive oxygen species(ROS) have been effectively dealt with for COUNTLESS generations (at least to reproductive age). But again as I have mentioned that evolutionary concepts nor nutritional biochemistry have yet to inform medical thinking. Which is why your hypothetical model is utterly devoid of their influence. There are change related to aging, but there again what's causing them?

Only some of which we can currently change. Those environmental exposures are certain to NEVER change when you are being EDUCATED to think their presence is HARMLESS and that mutation "JUST HAPPENS".

It doesn't stop us from looking at the cause at all. However, once it is caused, there is need for screening and treatment.As this discussion can attest, few consider it worthwhile to look for the causes. And yet: "To know truly is to know by causes."-- Francis Bacon

If a lot of people were coming into a hospital with broken legs, our first priority would be to treat them. Of course!! Ethically bound in fact!
We would also try and figure out why so many people were getting broken legs. If we found the source and it was, say, an icy sidewalk, we would then try to get rid of the ice. Yes and I think you have seen my point that to NOT ever look for the ACTUAL cause is unethical.

But be careful not to suggest that *all* genetic disease is caused by man-made environmental factors. As far as I can tell I haven't done so. I'd say it's possible however, but that analysis requires medical thought to be suspended and a serious look at evolutionary biology to be used. And even then its a tenuous idea ;)...

The ultimate percentages are rather small. Bringing your initial question to a moot point(and partially explaining why I altered the conversation to something more stimulating)

Note that they speak of differences in phenotype. The sickle cell phenotype (from which most of the symptoms are derived and which is the only *unifying* factor) is caused by a single mutation. Other mutations can make the symptoms worse - hence the reason that some cases need constant blood transfusions and others simply have pain crises every once and a while.

I have no problem with accepting the possibility that something may cause the mutation. However, without the knowledge of what causes the mutation, we can only prevent the symptoms. Yes I know! Which is why you aren't taught to look for causes: THERE'S NO MONEY IN IT!

Some mutations are normal. Others are not. NOT really. These are assumptions from within what you already hold as TRUE. You'd likely have some trouble PROVING them definitively.

I believe you asked if medical science has been informed by gravity, but ok.This is what I actually asked on page 5:

PS. What is gravity and has sub-atomic particle physics ever informed medical research? I asked but you don't have to answer...

A great deal of medical technology employs quantum physics. MRI being one obvious case, and the newer interest in quantum dots as possible diagnostic and treatment devices brings us into the cutting edge.Medical technology yes but the actual basic science BEHIND medical thought hasn't been updated. I mean like the cellular energetics of disease and stuff like that.

Be well,

Ken

PS. I recognise these posts are off topic and require a bit of your time to reply at length so I understand if you get to a point where it's not fun any more. Until then- it's cool!

Bottle

07-04-2005, 16:11

Most parents would pay for genetic screening or genetic modification of cosmetic traits. You know, like eliminating obesity, erasing the predisposition for depression or anti-social behavior. And don't forget blond hair and blue eyes. They would also pay for potential intelligence, or potential athletic talent.
parents already "screen" for many traits, by selecting a particular mate with characteristics they find desirable. parents already modify their children's cosmetic characteristics, by assigning diets, therapy, medications, and even plastic surgery.

if two people can see their fetus in utero and learn some of its characteristics before deciding if they want to carry it to term, is that worse than them having a child who turns out to have serious medical or mental problems? if parents are so determined to have a blond, athletic, perky child that they would subject their fetus to genetic screening or manipulation, is that worse than what they might do to their child if it were born "naturally" with brown hair, a weight problem, and clinical depression?

just some things to think about.

UpwardThrust

07-04-2005, 16:36

Bottle

07-04-2005, 16:42

I see this as less promoting the ability of screaning then motivating me to make sure parents dont do thoes things to the kids we have but thats just me :p
maybe, maybe not. for instance, many parents place their children on healthy diets and insist their kids exercise regularly, and they do so because they want their children to be fit rather than obese. now, if it is found that there is a gene or genes which predispose a child to obesity, would those parents be wrong for screening their fetus for such a characteristic? if gene therapy were available to correct that trait, would they be wrong to take advantage of such treatment?

another example would be ADHD. now, granted, there is a lot of over-medication going on, but let's just focus on the genuine cases of ADHD that are out there. right now, we treat the problem after it manefests, and the long-term impact of ADHD medication is still a little hazy to us. would it really be much worse to screen for or correct ADHD earlier on, before it manefests? what if it were possible to treat a newborn with a single course of drugs to prevent it from developing ADHD, and thus prevent that kid from needing to be on medication for 10 years later in life?

it's a fuzzy issue.

UpwardThrust

07-04-2005, 17:04

maybe, maybe not. for instance, many parents place their children on healthy diets and insist their kids exercise regularly, and they do so because they want their children to be fit rather than obese. now, if it is found that there is a gene or genes which predispose a child to obesity, would those parents be wrong for screening their fetus for such a characteristic? if gene therapy were available to correct that trait, would they be wrong to take advantage of such treatment?

another example would be ADHD. now, granted, there is a lot of over-medication going on, but let's just focus on the genuine cases of ADHD that are out there. right now, we treat the problem after it manefests, and the long-term impact of ADHD medication is still a little hazy to us. would it really be much worse to screen for or correct ADHD earlier on, before it manefests? what if it were possible to treat a newborn with a single course of drugs to prevent it from developing ADHD, and thus prevent that kid from needing to be on medication for 10 years later in life?

it's a fuzzy issue.

Now you are geting into the realm of phisical disabilities (not total disabilities maybe defects are the better word) that prevent some people from leading a normal life (they can at least) but in your origional example you were doing a phisical trait analaysis such as blond hair ... they have different conotations and I think should be concidered seperate cases

(but this brings about all the questiosn of "where do we draw the line" and what counts as a phisical defect and so on so forth ... and like most people I do not have all the answeres for tha :) )

Bottle

07-04-2005, 17:07

Now you are geting into the realm of phisical disabilities (not total disabilities maybe defects are the better word) that prevent some people from leading a normal life (they can at least) but in your origional example you were doing a phisical trait analaysis such as blond hair ... they have different conotations and I think should be concidered seperate cases

that's not necessarily true. some people feel that ADHD is just a matter of personality, that some kids are "bubbly" or "hyper" by nature, and we shouldn't be trying to manipulate their personality just so they can conform to educational or professional norms. similarly, many people have different standards of how "fit" their kids need to be, and for many parents the fitness of their children is more about cosmetics than about the health and wellbeing of those kids. these issues aren't clear cut disease versus non-disease situations.

Dempublicents1

07-04-2005, 17:57

Thank for your reply, I hope you find my posts as thought provoking as I find yours.

Absolutely. It is good to have a discussion that doesn't descend into insults.

However it is ENVIRONMENTAL factors that mostly contribute to mismatch repair deficiency.

Just to be pedantic, environmental factors contribute to DNA damage. The repair is still chugging along, generally, but can't keep up with the amount of damage. This is not a deficiency in repair (at young ages anyways), but would be an increase in damage rates.

For me it is an odd assertion to hold that MODERN mutation rates as comparable to the rates under which the many protective mechanisms evolved in the first place.

In truth, the rates would have been higher. I have yet to see anyone who stated that modern mutation rates are equivalent to those before repair mechanisms. In fact, we can see the effects of "leaky" replication and repair in certain viruses which mutate very quickly.

I'm curious why then didn't human adapt in the various ways other species have when the odd of offspring reaching reproductive age is LOW? You see this idea that it's NATURAL for 50% of pregnancies to terminate cannot stand up to EVOLUTIONARY BIOLOGY. You understand why fish lay so many eggs right?

Actually, it is perfectly compatible. Human beings are one of the few species that can mate any time of the year. Instead of super efficient reproduction, we have ever-ready reproduction. While a woman may not carry most pregnancies to term, she can get pregnant pretty much any time she is not currently pregnant.

I'll say AGAIN I'm not disavowing treatment, but it borders on malfeasance to not be looking at ALL possible sources of MUTATION. To accept the idea of RANDOM is to accept the level of empirical science as fact from the 1900's.

To suggest that there is no random mutation is to make an illogical jump.

Simple really- In order for us to have this conversation, the 'life' that is conveyed in our genes must have been in a living thing and carried forward since the beginning of life on earth. We (our genes) survived that arduous journey.

...and up until recent years, people simply didn't live as long as they do now. Most people didn't live beyond reproductive age at all.

Thus for example, the factors that cause reactive oxygen species(ROS) have been effectively dealt with for COUNTLESS generations (at least to reproductive age). But again as I have mentioned that evolutionary concepts nor nutritional biochemistry have yet to inform medical thinking. Which is why your hypothetical model is utterly devoid of their influence. There are change related to aging, but there again what's causing them?

Aging breaks down all of the body's processes. It is not surprising in the least that our antioxidant measures (many of which are hormone related - especially to estrogen) break down along with the rest. Not to mention that none of the repair or antioxidant processes are perfect. As such, some damage will build up over time until it becomes too much. A combination of build-up and reduction in repair will eventually lead to pathology.

Those environmental exposures are certain to NEVER change when you are being EDUCATED to think their presence is HARMLESS and that mutation "JUST HAPPENS".

I don't know where you received your education, but I have never been educated to think any such thing.

As this discussion can attest, few consider it worthwhile to look for the causes. And yet: "To know truly is to know by causes."-- Francis Bacon

Actually, to make that suggestion is silly. There is quite a bit of research going into the causes of genetic defects.
Of course!! Ethically bound in fact!
Yes and I think you have seen my point that to NOT ever look for the ACTUAL cause is unethical.

I never argued against it.

Bringing your initial question to a moot point(and partially explaining why I altered the conversation to something more stimulating)

I don't think it is a moot point at all. As far as I am concerned, it is a worthy cause to save a small percentage of children from horrible suffering and death. The fact that the percentage is small is, itself, a moot point.

Yes I know! Which is why you aren't taught to look for causes: THERE'S NO MONEY IN IT!

Again, you are making things up here. Those of us in the biotech field absolutely *are* taught to look for causes.

SMALL EARTH

08-04-2005, 19:57

Dem,

You have given some excellent thought to your reply yet again. I am headed away for the weekend and will reply in kind Monday or so.

Have a great weekend!!

Ken

Dempublicents1

08-04-2005, 20:20

Dem,

You have given some excellent thought to your reply yet again. I am headed away for the weekend and will reply in kind Monday or so.

Have a great weekend!!

Ken

Have fun!

Whispering Legs

08-04-2005, 20:45

parents already "screen" for many traits, by selecting a particular mate with characteristics they find desirable. parents already modify their children's cosmetic characteristics, by assigning diets, therapy, medications, and even plastic surgery.

if two people can see their fetus in utero and learn some of its characteristics before deciding if they want to carry it to term, is that worse than them having a child who turns out to have serious medical or mental problems? if parents are so determined to have a blond, athletic, perky child that they would subject their fetus to genetic screening or manipulation, is that worse than what they might do to their child if it were born "naturally" with brown hair, a weight problem, and clinical depression?

just some things to think about.

It's going to be possible soon, and I see no reason why people won't do it.

I remember when the movie Gattaca came out, they put a full page ad in the Washington Post, not for the movie, but for a genetic screening service that would certify that your child had all the traits you might desire - all for 10,000 dollars.

Hundreds of thousands of people called the 800 number to ask how they could get the screening. That's when they were told it was an advert for a movie.

The demand is there. I just hope that we don't end up with entire generations of girls who look like Britney Spears.

Dempublicents1

08-04-2005, 20:56

It's going to be possible soon, and I see no reason why people won't do it.

At first, it'll be the new fad - screening that is - changing is something we are decades away from.

But I don't think it'll last more than a generation really. Because when we get lots and lots of girls who look like Brittney Spears, it'll be the girls who *don't* who have the most value in society. That look will become normal and dull and the girls who look different will be more desired. Of course, I don't think people should put so much stock in looks anyways, but who am I to say.

SMALL EARTH

12-04-2005, 04:22

Dem,
Ok I'm back and ready to continue our dialogue. I hope you had a great weekend. FACTS cannot speak for themselves the must ALWAYS be interpreted. So insults aren't necessary since OPINIONS are just that. To think is to differ...

Just to be pedantic, environmental factors contribute to DNA damage. The repair is still chugging along, generally, but can't keep up with the amount of damage. EXACTLY- How could they! The rate of damage in modern age is in no way comparable rates during the the majority of our evolution- Hence the reason why we didn't EVOLVE stronger systems for repair/protection. There wasn't a need to be protected from damage that wasn't occuring!
This is not a deficiency in repair (at young ages anyways), but would be an increase in damage rates. Yes and as I trying to point out most of the additional strain on the repair and protective systems are ENVIRONMENTAL. For example: Weedkiller may cause amphibian loss http://www.newscientist.com/channel/earth/mg18624943.900

In truth, the rates would have been higher. Unsupported speculation based within a paradigm.
I have yet to see anyone who stated that modern mutation rates are equivalent to those before repair mechanisms. Considering the number of additional mutagens today it would odd to try to assert such an idea.
In fact, we can see the effects of "leaky" replication and repair in certain viruses which mutate very quickly.Well they mutate quickly for a reason right? Why assume that it is leaky? That's a biased view of the facts IMO.

Actually, it is perfectly compatible. Human beings are one of the few species that can mate any time of the year. Instead of super efficient reproduction, we have ever-ready reproduction. While a woman may not carry most pregnancies to term, she can get pregnant pretty much any time she is not currently pregnant. Yes but you can't account for the extreme age of sexual maturity using your initial idea of NATURALLY high infant mortality. What species can evolve under conditions of 50% of pregnancies terminating AND then offspring that must biologically wait 13 years for sexual reproduction while being 100% maternally dependent at birth! ie. eyesight, immunity etc. It doesn't hold water...

To suggest that there is no random mutation is to make an illogical jump. So you are suggesting that the UNIVERSE makes errors but NOT mankind's understanding of it? Aren't genes non living things that made of chemicals with follow the laws of chemistry, and atoms that follow laws of physics and so on? Sounds like the same egotistical thinking that created geocentrism.

...and up until recent years, people simply didn't live as long as they do now. Most people didn't live beyond reproductive age at all.You are confusing life span with the STATISTIC of life expectancy at birth. Life span hasn't improved appreciably while life expectancy has improved right after the dark ages with the application of hygiene during child birth. When many CITY children died at a few days old it brought the average age of death down to 38 or so. It didn't mean people didn't live longer than that! Come on you should know this!
"The average life span of Americans has been increasing dramatically since the industrial revolution. However, most of the gains resulted from decreasing childhood mortality. The maximum life span, generally determined to be about 125 years for women and somewhat shorter for men, has changed little in recorded history, although some experts suggest that it may be slowly increasing." http://www.merck.com/mrkshared/mm_geriatrics/sec1/ch1.jsp

Aging breaks down all of the body's processes. It is not surprising in the least that our antioxidant measures (many of which are hormone related - especially to estrogen) break down along with the rest. Actually most are NOT related directly to hormones but diet dependent chemicals like glutathione and superoxide dismutase. But then DOCTOR don't study NUTRITION and certainly not nutritional biochemistry. There are also secondary plant metabolites such as these: http://www.ars-grin.gov/cgi-bin/duke/chemical_activity.pl?Antioxidant and http://www.ars-grin.gov/cgi-bin/duke/chemical_activity.pl?Antimutagenic But modern diets don't INCLUDE these chemicals as much and as such there is a decline in the antioxidative defense systems.

Not to mention that none of the repair or antioxidant processes are perfect. As such, some damage will build up over time until it becomes too much. A combination of build-up and reduction in repair will eventually lead to pathology. Yes but again the rate is ENVIRONMENTALLY defined.

I don't know where you received your education, but I have never been educated to think any such thing. Well it seems that way to me since I DO hold the idea of chemicals in the environment as NOT benign and that mutation happen for reasons and you don't seem to be agreeing with me.

Actually, to make that suggestion is silly. There is quite a bit of research going into the causes of genetic defects. Really? That's interesting. How many of those studies point to man made ENVIRONMENTAL factors?

I don't think it is a moot point at all. As far as I am concerned, it is a worthy cause to save a small percentage of children from horrible suffering and death. The fact that the percentage is small is, itself, a moot point. EVERY infant needs to be tested for a TINY faction of a percentage risk? Sorry that's absurd to me and certainly a waste of taxpayers money at a minimum. It is almost as bogus as childhood vaccinations. Great BUSINESS however.

Again, you are making things up here. Those of us in the biotech field absolutely *are* taught to look for causes. I don't make things up thank you. I'll take you at your word but I'm curious: What causes cancer?

back to you,

Ken

Dempublicents1

12-04-2005, 17:54

EXACTLY- How could they! The rate of damage in modern age is in no way comparable rates during the the majority of our evolution- Hence the reason why we didn't EVOLVE stronger systems for repair/protection. There wasn't a need to be protected from damage that wasn't occuring!

I think you are coming from a very false assumption that evolution is directed and we develop whatever is perfect. If there was never a mutation to increase those protections further, then those with the *best* (note, not perfect) protections would fare the best.

Is the rate of damage today faster? Probably - but to assert that all damage build-up is due to environmental damage is a little silly. People were aging and died long before we were industrialized.

Unsupported speculation based within a paradigm.

Actually, based within logic. If there are no repair mechanisms, then there will be more build-up of random mutations. This simply makes sense.

Well they mutate quickly for a reason right? Why assume that it is leaky? That's a biased view of the facts IMO.

I am not assuming that is leaky - that is quite obvious. The reverse transcriptase in the viruses that mutate the quickest allows numerous errors. Is this an advantage for them? Probably - but that doesn't change the fact that the advantage comes from leakiness.

Yes but you can't account for the extreme age of sexual maturity using your initial idea of NATURALLY high infant mortality. What species can evolve under conditions of 50% of pregnancies terminating AND then offspring that must biologically wait 13 years for sexual reproduction while being 100% maternally dependent at birth! ie. eyesight, immunity etc. It doesn't hold water...

You still ignore the fact that there can be many, many pregnancies in a relatively short time period. And you still seem to think that evolution is directed.

There is also the fact that 13 is the age for sexual reproduction *now* (in some). Many are actually capable around the age of 9. Why make the assumption that it has always been so high?

So you are suggesting that the UNIVERSE makes errors but NOT mankind's understanding of it? Aren't genes non living things that made of chemicals with follow the laws of chemistry, and atoms that follow laws of physics and so on? Sounds like the same egotistical thinking that created geocentrism.

I have said no such thing. How are mutations necessarily errors? They are part and parcel of life.

You are confusing life span with the STATISTIC of life expectancy at birth. Life span hasn't improved appreciably while life expectancy has improved right after the dark ages with the application of hygiene during child birth. When many CITY children died at a few days old it brought the average age of death down to 38 or so. It didn't mean people didn't live longer than that! Come on you should know this!

THe majority of people did not live that long. The huge numbers of elderly we are seeing now is a new occurence in history.

"The average life span of Americans has been increasing dramatically since the industrial revolution. However, most of the gains resulted from decreasing childhood mortality. The maximum life span, generally determined to be about 125 years for women and somewhat shorter for men, has changed little in recorded history, although some experts suggest that it may be slowly increasing." http://www.merck.com/mrkshared/mm_geriatrics/sec1/ch1.jsp

This quote says nothing to dispute me. I never said that the maximum life span has changed, but that the actual lifespan has changed. How many people do you think live to 80 now? How many lived to 80 100 years ago? 200? 1000?

Actually most are NOT related directly to hormones but diet dependent chemicals like glutathione and superoxide dismutase.

You are stepping into the territory of my lab here, and I believe you are in error here. GPx and SOD are no more dependent on diet than any other enzymes in the body. If you have a proper diet, you will have the proper enzymes.

Edit: I did somewhat mispeak here. What I meant to say was that enzymes like GPx and SOD are not the most dependent on diet. There are many enzymes that your body will keep making as long as it has anything to make them with, and there are others that are highly diet-dependent. GPx and SOD are on neither extreme.

Meanwhile, the loss of estrogen does have an effect on antioxidants, as it upregulates antioxidant protection.

But then DOCTOR don't study NUTRITION and certainly not nutritional biochemistry. There are also secondary plant metabolites such as these: http://www.ars-grin.gov/cgi-bin/duke/chemical_activity.pl?Antioxidant and http://www.ars-grin.gov/cgi-bin/duke/chemical_activity.pl?Antimutagenic But modern diets don't INCLUDE these chemicals as much and as such there is a decline in the antioxidative defense systems.

Which could be part of the problem, but does not account for the entire thing.

Yes but again the rate is ENVIRONMENTALLY defined.

To a point, yes. To a point, no.

Well it seems that way to me since I DO hold the idea of chemicals in the environment as NOT benign and that mutation happen for reasons and you don't seem to be agreeing with me.

It's not that I disagree with you - it is that you are overexaggerating here. Yes, of course the environment is part of pathology. However, it is not the magic bullet, and we should not treat it as such.

Really? That's interesting. How many of those studies point to man made ENVIRONMENTAL factors?

Quite a few, actually.

EVERY infant needs to be tested for a TINY faction of a percentage risk? Sorry that's absurd to me and certainly a waste of taxpayers money at a minimum. It is almost as bogus as childhood vaccinations. Great BUSINESS however.

Yes.

I suppose, by your logic, we should do away with seatbelts and airbags. After all, only a tiny percentage of the people who get in cars get in large accidents.

We should take the parachutes/flotation devices/etc. off of planes, since so few actually crash.

We should stop checking our food for toxins and disease, since so little of it actually contains any.

By your logic, all preventative measures are unecessary?

I don't make things up thank you.

When you try to make such broad statements about the field which are obviously wrong, it is fairly certain that you are making things up.

I'll take you at your word but I'm curious: What causes cancer?

Directly? Mutations in the DNA. Generally, a mutation in one of the repair or proofreading mechanisms occurs first - allowing further mutations to go unchecked. Eventually, those genes regulating cell cycle are damaged, and this leads to out of control growth.

What causes mutations? All sorts of things. UV radiation, Reactive Oxygen SPecies, mutagenic chemicals, etc, etc. Studies to determine carcinogencity of chemicals have shown that if you have enough of just about anything, it can cause damage.

SMALL EARTH

04-05-2005, 18:42

Dem,

OK I'm back from a much needed and enjoyed vacation. YEE ha! I see that you yet again intelligently responded to my last post so I'll try and do the same. I hope you still would enjoy communicating on this topic.

I think you are coming from a very false assumption that evolution is directed and we develop whatever is perfect. Well unless I assume some manner of feedback between genes and environment I'd be at a loss to explain how all forms of LIFE that exist today got here after several billion years of interfacing their environments. You are rather incorrect that I see evolution as DIRECTED. Speciation can be seen as coming from ENVIRONMENTAL pressures and in that sense it's contextually DRIVEN but not directed per se... As I had asked previously do you know about nuclear transcription factors(NFkapa Beta etc.). However one could argue that the underlying sub-atomic particle physics that allows the PHYSICAL manifestation of DNA, RNA etc has some hand in the movement of evolution at it's most basic-the movement of energy clearly is connected to the process of living. But there again as I have maintained, this manner of thought has yet to inform even basic medical paradigms. Perhaps the 'imperfection' you see is a projection of your own thought process? Have you forgotten that you see DATA from WITHIN the framework you are taught?Perhaps that's why you see MUTATION as a valid explanation for the diversity of life?- Yet to find 'what is' you must question even that which is held in the mind as TRUE.

If there was never a mutation to increase those protections further, then those with the *best* (note, not perfect) protections would fare the best. Yes EXACTLY!!! So ALL living things today have done precisely this for the entire duration of evolution up to this moment in time- And yet you are suggesting that the same genes that made the journey of millions of generation possible are NOW the "cause" of disease- Seems to me you are IGNORING the MASSIVE changes to our environment. Which brings us back to my point: TODAY'S chemical environment is at odds with the environment that ALL life was successful at surviving in since the begin of life on earth.

Is the rate of damage today faster? Probably - but to assert that all damage build-up is due to environmental damage is a little silly. People were aging and died long before we were industrialized.Silly? Really and why would that be? Because you were NOT taught it perhaps? The DATA is there! Clearly you haven't been looking at the accumulation of man-made chemicals in the biosphere. DO you even know how a fungicide or pesticide KILLS it's target? How much of the oral dose of a typical prescription drug leaves the body UNCHANGED? Where do these chemicals go? How long is that chemical cycle?

I am not assuming that is leaky - that is quite obvious. The reverse transcriptase in the viruses that mutate the quickest allows numerous errors. Is this an advantage for them? Probably - but that doesn't change the fact that the advantage comes from leakiness. Then why call it imperfect? Perhaps this "leakiness" has something to do with quantum tunneling?

You still ignore the fact that there can be many, many pregnancies in a relatively short time period. And you still seem to think that evolution is directed. NO I don't, but you seem to think that I do, so that is how you SEE my assertions. Do the math and let me know...

There is also the fact that 13 is the age for sexual reproduction *now* (in some). Many are actually capable around the age of 9. Why make the assumption that it has always been so high? UMM comparative biology? Primates? They also live a long time in nature as well(without doctors or genetic screening).

THe majority of people did not live that long. Really? This the an interpretation of the known DATA for city dwellers. That was the ONLY population that was chronicled early on. As for people not living "that long" you seem miss that children dying at 3 days old brings the AVERAGE age of death DOWN to 38 very quickly(ie. dark ages). You should really know better than to assert the majority are living longer today based on 'life expectancy' at birth statistics. This is not to even discuss the fact that America's not even in the top 10 or 20 for life expectancy THESE DAYS!

This quote says nothing to dispute me. I never said that the maximum life span has changed, but that the actual lifespan has changed. How many people do you think live to 80 now? How many lived to 80 100 years ago? 200? 1000? MORE than you assume and perhaps less than I do. You might consider the sources of said data for pre-historic times and thus the possibly biased interpretations of the linear regressions done to ESTIMATE bone wear...

You are stepping into the territory of my lab here, and I believe you are in error here. GPx and SOD are no more dependent on diet than any other enzymes in the body. If you have a proper diet, you will have the proper enzymes. yes I understand you were taught this? What if there ARE dietary factors you have NOT been taught about? Have you studied nutritional biochemistry(modern nutrition)? I mean how good was analytical chemistry in the 1930's? Only MODREN science(HPLC etc) could delineate structure in ways that are relevant.

"The induction of glutathione S-transferases by flavonoids is associated with cancer chemopreventive effects"
http://carcin.oupjournals.org/cgi/content/abstract/24/3/475

"Enhancement of rat hepatic and gastrointestinal glutathione and glutathione S-transferases by alpha-angelicalactone and flavone"
http://carcin.oupjournals.org/cgi/content/abstract/16/3/607

"Selenium, an essential nutritional trace element, has been known to be an essential component in the enzymatic active site of GPX"
http://cancerres.aacrjournals.org/cgi/content/full/61/19/7071

"selenium deficiency resulted in a marked reduction of glutathione peroxidase"
http://ajprenal.physiology.org/cgi/content/abstract/263/1/F56

"Epidemiological studies and in vitro analysis demonstrate correlations between selenium status and human pre-eclampsia (PET). "
http://www.reproduction-online.org/cgi/content/abstract/128/5/635

At a minimum you'd must accept that environment plays a major role in the CYCLES of compounds that create the underpinnings of these enzymes.

Edit: I did somewhat mispeak here. What I meant to say was that enzymes like GPx and SOD are not the most dependent on diet. There are many enzymes that your body will keep making as long as it has anything to make them with, and there are others that are highly diet-dependent. GPx and SOD are on neither extreme.GPX and SOD are dependent on DIET- they don't need to be "the most dependent" to be in line with my initial assertion that DIET can alter the potential for "mutation". So the real question is :What is the proper diet? Wouldn't it be the patterns of nutrients that have been sustained the genome the longest? Well there again we are back at MY point.

Meanwhile, the loss of estrogen does have an effect on antioxidants, as it upregulates antioxidant protection. Yeah so what? You clearly are missing 10 of THOUSANDS of other antioxidative chemicals which are supplied ONLY by diet.

The Effects of Plant Flavonoids on Mammalian Cells:Implications for Inflammation, Heart Disease, and Cancer
http://pharmrev.aspetjournals.org/cgi/content/full/52/4/673

It's not that I disagree with you - it is that you are overexaggerating here. Yes, of course the environment is part of pathology. However, it is not the magic bullet, and we should not treat it as such. There are NO magic bullets! Yet it is you who are suggesting genes are just such a thing-the MAGIC cause of disease!
I suppose, by your logic, we should do away with seatbelts and airbags. After all, only a tiny percentage of the people who get in cars get in large accidents. Nope you would NOT be applying MY logic since seatbelts and airbags don't PREVENT accidents! You'd do well to recall that my point is that YOU assume that genes are CAUSING the diseases.

We should stop checking our food for toxins and disease, since so little of it actually contains any. Well according to you this is NOT even a major cause of disease- Especially not the 10,000's of man made chemicals which are in our food and water and yet haven't been tested...

By your logic, all preventative measures are unecessary?Genetic testing isn't a "preventative measure" in its purest sense. It is addressing a problem that has a CAUSE that is being IGNORED. And that is what this conversation is about.

When you try to make such broad statements about the field which are obviously wrong, it is fairly certain that you are making things up. Well that is the nature of THOUGHT my friend-ASSUMPTION I assure you I can back up EVERYTHING I have stated with PEER reviewed information.

Directly? Mutations in the DNA. Generally, a mutation in one of the repair or proofreading mechanisms occurs first - allowing further mutations to go unchecked. Eventually, those genes regulating cell cycle are damaged, and this leads to out of control growth.Yes and for how long have there been chemicals on earth that could actually damage these systems?

What causes mutations? All sorts of things. UV radiation, Reactive Oxygen SPecies, mutagenic chemicals, etc, etc. Studies to determine carcinogencity of chemicals have shown that if you have enough of just about anything, it can cause damage. Yes and in order to have survived the evolutionary process for the millions of generations each one of us MUST have been able to survive "UV radiation, Reactive Oxygen SPecies, mutagenic chemicals, etc, etc"- However since the 1890's compounds that in the history of earth were NON existent are NOW being routinely consumed. You are familiar with PETROLEUM cracking and ORGANIC synthesis? What then is the GENETIC source of the enzymatic protocols for dealing with these 'non-natural' chemicals that our genome has also NOT had sufficient evolutionary exposures to? There would be much!! And that is the problem you are missing.

Again I'm not saying I'm correct, I'm stating an opinion. ALL opinions are limited-The human MIND can ONLY know the KNOWN-yet the UNKNOWN is where one must look to find TRUTH.

Back to you!

Ken

Dempublicents1

04-05-2005, 20:44

As I had asked previously do you know about nuclear transcription factors(NFkapa Beta etc.).

I know of them. I couldn't tell you right off the top of my head everything that a given transcription factor does (especially since we don't even know), but I do know some of them.

However one could argue that the underlying sub-atomic particle physics that allows the PHYSICAL manifestation of DNA, RNA etc has some hand in the movement of evolution at it's most basic-the movement of energy clearly is connected to the process of living.

This is fairly evident.

Perhaps the 'imperfection' you see is a projection of your own thought process?

Are you going to deny that certain things about the body, if designed, would be different?

Yes EXACTLY!!! So ALL living things today have done precisely this for the entire duration of evolution up to this moment in time- And yet you are suggesting that the same genes that made the journey of millions of generation possible are NOW the "cause" of disease-

Incorrect. I am stating that mutations in given genes cause disease states.

Seems to me you are IGNORING the MASSIVE changes to our environment.

On the contrary. I have stated more than once that the environmental changes can and most likely do have quite an impact. I am simply pointing out that it is ludicrous to place all blame for every genetic disease upon them.

Silly? Really and why would that be? Because you were NOT taught it perhaps? The DATA is there!

You have data that rules out all other factors?!?!?!??!! By all means, please provide it! You'll probably win a Nobel Prize.

Then why call it imperfect? Perhaps this "leakiness" has something to do with quantum tunneling?

It isn't imperfect, it is leaky. Like I said, such leakiness gives it an advantage. It does *not*, however, provide "correct" copies of the genome, if "correct" is interpreted as being the original code.

UMM comparative biology? Primates? They also live a long time in nature as well(without doctors or genetic screening).

Not nearly as long as human beings. And they can mate much, much, much sooner.

You should really know better than to assert the majority are living longer today based on 'life expectancy' at birth statistics.

If that were the only reason for the assertion, you would have a point.

yes I understand you were taught this? What if there ARE dietary factors you have NOT been taught about?

It would not change the fact that all bodily processes are predicated upon good nutrition. Without the proper nutrients, all sorts of bodily processes go wacky.

I mean how good was analytical chemistry in the 1930's? Only MODREN science(HPLC etc) could delineate structure in ways that are relevant.

Who said anything about the 1930's?

At a minimum you'd must accept that environment plays a major role in the CYCLES of compounds that create the underpinnings of these enzymes.

I never said it didn't.

GPX and SOD are dependent on DIET- they don't need to be "the most dependent" to be in line with my initial assertion that DIET can alter the potential for "mutation". So the real question is :What is the proper diet? Wouldn't it be the patterns of nutrients that have been sustained the genome the longest? Well there again we are back at MY point.

Diet can alter the potential for nutrition - I have never disputed that. I have simply disputed that it is the end-all-be-all.

There are NO magic bullets! Yet it is you who are suggesting genes are just such a thing-the MAGIC cause of disease!

Incorrect. I have made no such suggestion.

Nope you would NOT be applying MY logic since seatbelts and airbags don't PREVENT accidents!

Finding a disease early PREVENTS the adverse affects it can cause.

You'd do well to recall that my point is that YOU assume that genes are CAUSING the diseases.

The are the direct cause. I have made no assumptions about the underlying cause of the mutations.

Well according to you this is NOT even a major cause of disease-

Again, I have never once made a statement that would even imply this.

Genetic testing isn't a "preventative measure" in its purest sense. It is addressing a problem that has a CAUSE that is being IGNORED. And that is what this conversation is about.

The cause is not being ignored. As I pointed out before, there is quite a bit of research into the causes of such mutations. However, that research does not preclude treating the diseases already occurring.

Well that is the nature of THOUGHT my friend-ASSUMPTION I assure you I can back up EVERYTHING I have stated with PEER reviewed information.

I highly doubt that you have a peer-reviewed article stating that environment is the end-all-be-all in all disease.

Yes and for how long have there been chemicals on earth that could actually damage these systems?

For as long as there has been life.

Again I'm not saying I'm correct, I'm stating an opinion. ALL opinions are limited-The human MIND can ONLY know the KNOWN-yet the UNKNOWN is where one must look to find TRUTH.

Your opinion is that I am ignoring something which I am quite clearly not.

SMALL EARTH

09-05-2005, 14:12

Dem,

I've been a little busy of late with several projects but I do intend to continue our conversation. Until then, I thought you might find this article of interest.

Be well,
Ken

Targeting the antioxidant enzyme to mitochondria supports the free-radical theory of aging | By Don Monroe

Mice engineered to produce high levels of the antioxidant catalase live significantly longer than their wildtype counterparts, according to a report published online by Science this week. Researchers observed the largest lifespan extension when they targeted the catalase to mitochondria, which are thought to be the major cellular source of reactive oxygen species (ROS) such as hydrogen peroxide.

The results lend support to the free-radical theory of aging, which attributes many of the infirmities of old age to accumulated cellular damage caused by ROS and the free radicals they generate. Although such damage increases with age, previous attempts to manipulate it have yielded contradictory results. "Until this study, it wasn't clear that it was truly a cause [of aging in mammals] or an effect that correlated with age," David Sinclair of Harvard Medical School, Boston, who was not involved in the study, told The Scientist. "It's a pretty big deal," he added.

CONTINUES at length:
http://www.biomedcentral.com/news/20050506/01

Dempublicents1

09-05-2005, 14:34

Targeting the antioxidant enzyme to mitochondria supports the free-radical theory of aging | By Don Monroe

Rather interesting. I'll have to look at the paper itself though. Many of the authors are ones who we work with on a regular basis, so that is good. *waits for her advisor to bring in the latest copy of Science*.

On a side note, I just weaned some catalase transgenics. (They're so cute when they're little - fast little buggers though).

Edit: Apparently, I mispoke before. The catalase transgenics are the newest strain we have, and we haven't yet done aging studies with them. Interesting that none of the knockouts had shortened lifespans, but the transgenics have somewhat lengthened ones.

SMALL EARTH

09-05-2005, 16:05

Hey what do you know about this topic? Epigenetics and its role in disease

The adjective "epigenetic" has been used to describe many types of biological processes, but with the evolution of epigenetics into a subdiscipline of molecular biology, its meaning has become quite focused. Although the term is sometimes used more broadly, epigenetic effects are usually taken to encompass changes in the genetic material — the genomic DNA and chromatin — that alter gene expression in a manner that is heritable during somatic cell divisions (and sometimes even in germline transmission), but that is nonmutational and therefore fundamentally reversible. The articles collected here consider in some detail the consequences of such effects for human disease phenotypes.

A major theme of the series is that lesions in human disease genes can be partly or entirely epigenetic. Researchers in this area are engrossed with the fascinating complexities of these lesions, and hints of mechanisms for both normal and pathological epigenetic regulation are emerging. There is also an obvious practical motivation to study epigenetic gene regulation in disease states: as a nonmutational and reversible process, it is, at least in principle, amenable to therapy. Agents that interfere with DNA methylation or that alter histone acetylation can erase epigenetic marks. Although the drugs studied to date may be too broad in their effects to be useful clinically, compounds that act similarly but with sequence-specific effects would be attractive therapeutic agents for certain cancers and other diseases. Furthermore, as T. Bestor (this series) argues, epigenetic effects may also account for the unexpected difficulty of developing gene therapies to treat diseases that are not, themselves, epigenetic in origin.

http://www.jci.org/cgi/content/full/105/3/245

Dempublicents1

09-05-2005, 16:10

Hey what do you know about this topic? Epigenetics and its role in disease

I know that epigenetics is incredibly interesting and that more traits turn out to be epigenetic than we generally expect. Every seen the cloned kitten? Its coloring is nothing like the cat it was cloned from. Why? Epigenetic changes.

I don't have much in-depth knowledge in this area, however. It's something I've been meaning to look into.

SMALL EARTH

13-07-2005, 00:10

I know that epigenetics is incredibly interesting and that more traits turn out to be epigenetic than we generally expect. Every seen the cloned kitten? Its coloring is nothing like the cat it was cloned from. Why? Epigenetic changes.

I don't have much in-depth knowledge in this area, however. It's something I've been meaning to look into.

I thought you might find this of INTEREST:

The largest twin study on epigenetic profiles yet reveals the extent to which lifestyle and age can impact gene expression, an international research team reports in this week's PNAS. Senior author Manel Esteller of the Spanish National Cancer Center in Madrid and colleagues found that 35% of twin pairs had significant differences in DNA methylation and histone modification profiles.

"These findings help show how environmental factors can change one's gene expression and susceptibility to disease, by affecting epigenetics," Esteller told The Scientist. http://www.the-scientist.com/news/20050707/02

Katganistan

13-07-2005, 02:50

pif two people can see their fetus in utero and learn some of its characteristics before deciding if they want to carry it to term, is that worse than them having a child who turns out to have serious medical or mental problems?

One problem is that the tests are not nearly accurate enough. My brother and sister-in-law were told that, on the basis of the amniocentisis done, their infant would have Down's Syndrome and be retarded, possibly profoundly.

They decided, even after hearing this, not to abort their child -- mostly because their "superstition" told them that it would be sinful to end the child's life.

They endured months of worry and wondering how they would provide for a child with the needs they were told it would have...

...and had a perfectly healthy girl who most definitely does NOT have Down's Syndrome, is NOT even MILDLY retarded, and who is quite honestly quite a clever little thing. (Example: told not to wake her younger sister by her mom, my niece waited a few minutes, then told her grandmother, "I hear the baby crying -- I better check." Whereupon she went upstairs and woke her sister to play. :) This is at age 3, mind you.)

The boldly courageous

13-07-2005, 19:41

So, just about every state (sorry to the people from other countries - I don't know what you guys do) has some sort of required infant screening. There is a long list of perfectly treatable genetic metabolic disorders. By treatable, I mean they can be treated by a restricted diet or dietary supplements. If you detect the disease early, and put the infant on the proper diet, no problems will arise. If you do not, the infant will either die or, if it is diagnosed once symptoms arise, will suffer severe developmental defects and mental retardation. Again, these problems are perfectly preventable.

Now, most states have chosen the most common 10 or so to occur in their area and screen all infants for these diseases (they take a few drops of blood, which they send off to some state testing center to be tested). There *is*, however, the technology to test for the entire list. One of the Carolinas (I don't remember which right now) actually carries out this "extended infant screening." I recently discovered that Georgia bought the necessary machinery (basically, a tandem mass spectrometer), but it is sitting unused in the testing center due to budget cuts.

I have discussed this with many people, all of whom agree that they would not mind a very slight increase in taxes (which is all it would be) if they knew that the money was going towards infant screening. I certainly wouldn't. However, most people I have talked to think that the majority would not approve of any tax increase, even to save these infants.

What do you think?

I would have no difficulty in the increase. The state metabolic screen is very vital in early detection of metabolic disorders. Originally I believe it only tested for... see if the memory is working...PKU, Galactosemia, Sickle cell, Hypothyroidism, the fifth ... memory fading maybe G6PD.

Now in some states you can have the updated list of screens plus an extended list of tests performed for no further cost. All the parent/parents have to do is sign a consent form. A bonus is that no further blood needs to be drawn from the infant to accomplish it.

I believe the reason states are increasing the pool of tests deals with an effort to increase the identification of the said populations so early treatment/management can begin thus decreasing the cost of health care overall.

Dempublicents1

13-07-2005, 19:51

One problem is that the tests are not nearly accurate enough. My brother and sister-in-law were told that, on the basis of the amniocentisis done, their infant would have Down's Syndrome and be retarded, possibly profoundly.

They decided, even after hearing this, not to abort their child -- mostly because their "superstition" told them that it would be sinful to end the child's life.

They endured months of worry and wondering how they would provide for a child with the needs they were told it would have...

...and had a perfectly healthy girl who most definitely does NOT have Down's Syndrome, is NOT even MILDLY retarded, and who is quite honestly quite a clever little thing. (Example: told not to wake her younger sister by her mom, my niece waited a few minutes, then told her grandmother, "I hear the baby crying -- I better check." Whereupon she went upstairs and woke her sister to play. :) This is at age 3, mind you.)

That's really interesting.

I don't know exactly what they check for in the amniocentisis test, but if they thought they were detecting Down's, they must check for chromosome numbers. I wonder if this young girl had a fraternal twin that did have Down's and was absorbed in the womb?

Of course, it could just be a false positive as well.

I would have no difficulty in the increase. The state metabolic screen is very vital in early detection of metabolic disorders. Originally I believe it only tested for... see if the memory is working...PKU, Galactosemia, Sickle cell, Hypothyroidism, the fifth ... memory fading maybe G6PD.

I think different states have done different tests, depending on what was more prevalent. One that they test for in GA, I believe, is Maple Syrip Urine Disease.

Glad that you would be ok with paying the slight cost increase though.

I believe the reason states are increasing the pool of tests deals with an effort to increase the identification of the said populations so early treatment/management can begin thus decreasing the cost of health care overall.

Most likely. And if we're going to get states to fund these types of things - that is the type of reasoning we'll have to use.

What caused this thread to get rezzed, anyway?

NationStates Jolt Archive

Infant screening for genetic disease (Poll)