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Undiagnosed Diseases Overwhelm NIH

An NIH program to identify mystery diseases has stopped accepting applications after being flooded with cases.

By | July 5, 2011

Clinical Research CenterNATIONAL INSTITUTE OF HEALTH

A National Institutes of Health program to diagnose rare diseases is, for now, no longer accepting new applications. After receiving more than 5400 queries and 1900 applications since its inception in 2008, the Undiagnosed Diseases Program, which aims to gain basic knowledge of rare human diseases and to aid those suffering from them, decided to take a break from new applications to eliminate the backlog of cases it has already taken on.

Reviewers selected 450 applicants, whose medical records provided promising leads, and NIH investigators have looked into 350 of those cases so far. Selected patients come to the NIH’s Bethesda, Maryland, clinic for a complete medical workup by NIH staff, including genome sequencing. Earlier this year, the program published its first findings, identifying in nine patients an inherited deficiency in an adenosine enzyme  as the culprit in calcium buildup in their lower body arteries. Treatment with adenosine, which prevents calcification, reduced the symptoms.

The program hopes to start accepting new cases in a few months, after putting some of the ongoing investigations to bed, program head William Gahl told ScienceInsider.

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Avatar of: agelbert

agelbert

Posts: 50

July 5, 2011

"Inherited" is an ineresting word. Depending on the environmental conditions of the female that gestated the offspring with the inherited defect, a link can be established to, for example, radionuclide upregulation of tyrosine kinase enzymes resulting in accelerated ATP phosphorylation and delayed apoptosis (i.e. cancerous tumors).

It's time for our scientific community to admit there are rather blatent links between our trashed ecosphere as a result of industrial and nuclear toxins so that liability for the deleterious effects these toxins have on human health can be established.

It's not just about money. If our goverment and corporations are not stopped in their uncontrolled release of all manner of toxins using the fig leaf of research and development, homo sapiens may perish. The slow development of genetic deterioration species wide from toxins has been proven in short life span species.

Of course the government and corporations will fight tooth and nail to prevent liability for environmental damage that results in "inherited" infirmities from being proven. they will claim that correlation is not cuasation. They will claim more studies need to be done.

Wake up. How long did it take for Gulf War Syndrome to be recognized as real by the scientific community? We are in a lot more trouble than most people realize.

Avatar of: Paul Stein

Anonymous

July 5, 2011

Anyone going to various disease or help message boards on-line can see the myriad of people with health trainwrecks.  We cannot ignore all of these individuals.  The NIH must keep accepting applications. 

Avatar of:

Posts: 0

July 5, 2011

"Inherited" is an ineresting word. Depending on the environmental conditions of the female that gestated the offspring with the inherited defect, a link can be established to, for example, radionuclide upregulation of tyrosine kinase enzymes resulting in accelerated ATP phosphorylation and delayed apoptosis (i.e. cancerous tumors).

It's time for our scientific community to admit there are rather blatent links between our trashed ecosphere as a result of industrial and nuclear toxins so that liability for the deleterious effects these toxins have on human health can be established.

It's not just about money. If our goverment and corporations are not stopped in their uncontrolled release of all manner of toxins using the fig leaf of research and development, homo sapiens may perish. The slow development of genetic deterioration species wide from toxins has been proven in short life span species.

Of course the government and corporations will fight tooth and nail to prevent liability for environmental damage that results in "inherited" infirmities from being proven. they will claim that correlation is not cuasation. They will claim more studies need to be done.

Wake up. How long did it take for Gulf War Syndrome to be recognized as real by the scientific community? We are in a lot more trouble than most people realize.

Avatar of:

Posts: 0

July 5, 2011

Anyone going to various disease or help message boards on-line can see the myriad of people with health trainwrecks.  We cannot ignore all of these individuals.  The NIH must keep accepting applications. 

Avatar of:

Posts: 0

July 5, 2011

"Inherited" is an ineresting word. Depending on the environmental conditions of the female that gestated the offspring with the inherited defect, a link can be established to, for example, radionuclide upregulation of tyrosine kinase enzymes resulting in accelerated ATP phosphorylation and delayed apoptosis (i.e. cancerous tumors).

It's time for our scientific community to admit there are rather blatent links between our trashed ecosphere as a result of industrial and nuclear toxins so that liability for the deleterious effects these toxins have on human health can be established.

It's not just about money. If our goverment and corporations are not stopped in their uncontrolled release of all manner of toxins using the fig leaf of research and development, homo sapiens may perish. The slow development of genetic deterioration species wide from toxins has been proven in short life span species.

Of course the government and corporations will fight tooth and nail to prevent liability for environmental damage that results in "inherited" infirmities from being proven. they will claim that correlation is not cuasation. They will claim more studies need to be done.

Wake up. How long did it take for Gulf War Syndrome to be recognized as real by the scientific community? We are in a lot more trouble than most people realize.

Avatar of:

Posts: 0

July 5, 2011

Anyone going to various disease or help message boards on-line can see the myriad of people with health trainwrecks.  We cannot ignore all of these individuals.  The NIH must keep accepting applications. 

Avatar of:

Posts: 0

July 10, 2011

This is just pitiful. 

NIH is understaffed and under-resourced, but Halliburton and Blackwater/Xe are rolling in profits right now.  Exxon, more profitable than it has ever been before, is getting *billions* of dollars in tax breaks annually.

And NIH does without.

Of course, Halliburton, Blackwater, Exxon, etc. all have cadres of lobbyists.  NIH and families suffering from rare or unknown diseases don't.  I wish this had been a front-page story in the Washington Post, on a week when Congress is in session.

Avatar of:

Posts: 0

July 10, 2011

This is just pitiful. 

NIH is understaffed and under-resourced, but Halliburton and Blackwater/Xe are rolling in profits right now.  Exxon, more profitable than it has ever been before, is getting *billions* of dollars in tax breaks annually.

And NIH does without.

Of course, Halliburton, Blackwater, Exxon, etc. all have cadres of lobbyists.  NIH and families suffering from rare or unknown diseases don't.  I wish this had been a front-page story in the Washington Post, on a week when Congress is in session.

Avatar of: Ankhorite

Ankhorite

Posts: 3

July 10, 2011

This is just pitiful. 

NIH is understaffed and under-resourced, but Halliburton and Blackwater/Xe are rolling in profits right now.  Exxon, more profitable than it has ever been before, is getting *billions* of dollars in tax breaks annually.

And NIH does without.

Of course, Halliburton, Blackwater, Exxon, etc. all have cadres of lobbyists.  NIH and families suffering from rare or unknown diseases don't.  I wish this had been a front-page story in the Washington Post, on a week when Congress is in session.

Avatar of: LouiseM

LouiseM

Posts: 6

July 22, 2011

As the sufferer of a rare and little-researched pain disorder, CPS, I can only ask "Who is this "we"? It is obvious to all of us who suffer from neurological disorders that there is so little research done because *there is no profit in it.* The "Free Market" is supposed to rule all in the US! Government assistance is socialism! The market will give us the best possible use of our resources!

It doesn't matter if "we", the people, or "we", the scientific and research community, reject these ridiculous and easily-disproved truisms. The "we" that spout them have the money and the means to make them the ruling tenets of the society. Hundreds  of  thousands of people will suffer and die from these diseases every year, far more than were killed on 9/11. But we will keep spending nine times as much as the next nation on our military because "we" are supposedly more threatened by terrorists.

Who are the real terrorists here?  Certainly there are 50 million Americans that are terrified of getting sick because they have no health insurance. Perhaps it's the for-profit health industry that is the true terrorist organization.

Avatar of:

Posts: 0

July 22, 2011

As the sufferer of a rare and little-researched pain disorder, CPS, I can only ask "Who is this "we"? It is obvious to all of us who suffer from neurological disorders that there is so little research done because *there is no profit in it.* The "Free Market" is supposed to rule all in the US! Government assistance is socialism! The market will give us the best possible use of our resources!

It doesn't matter if "we", the people, or "we", the scientific and research community, reject these ridiculous and easily-disproved truisms. The "we" that spout them have the money and the means to make them the ruling tenets of the society. Hundreds  of  thousands of people will suffer and die from these diseases every year, far more than were killed on 9/11. But we will keep spending nine times as much as the next nation on our military because "we" are supposedly more threatened by terrorists.

Who are the real terrorists here?  Certainly there are 50 million Americans that are terrified of getting sick because they have no health insurance. Perhaps it's the for-profit health industry that is the true terrorist organization.

Avatar of:

Posts: 0

July 22, 2011

As the sufferer of a rare and little-researched pain disorder, CPS, I can only ask "Who is this "we"? It is obvious to all of us who suffer from neurological disorders that there is so little research done because *there is no profit in it.* The "Free Market" is supposed to rule all in the US! Government assistance is socialism! The market will give us the best possible use of our resources!

It doesn't matter if "we", the people, or "we", the scientific and research community, reject these ridiculous and easily-disproved truisms. The "we" that spout them have the money and the means to make them the ruling tenets of the society. Hundreds  of  thousands of people will suffer and die from these diseases every year, far more than were killed on 9/11. But we will keep spending nine times as much as the next nation on our military because "we" are supposedly more threatened by terrorists.

Who are the real terrorists here?  Certainly there are 50 million Americans that are terrified of getting sick because they have no health insurance. Perhaps it's the for-profit health industry that is the true terrorist organization.

Avatar of: Running4shape

Anonymous

September 1, 2011

Yes we should waste billions on an illness 5 people have. 

Avatar of:

Posts: 0

September 1, 2011

Yes we should waste billions on an illness 5 people have. 

Avatar of:

Posts: 0

September 1, 2011

Yes we should waste billions on an illness 5 people have. 

Avatar of:

Posts: 0

September 8, 2011

It is so sad to read about your lack of knowledge concerning energy company taxation.   The "Big Oil" companies get exactly the same tax treatment as other US corporations and based upon the US generated profits.

As to the lack of NIH funding, you might want to look how Barry is distributing the money from his stash.  The taxpayers will be taking it in the rear for about $500,000,000 of special loan guarantees to one of his pet projects that just went bankrupt.  Still unfolding but yiou can get some info on it here:
Soloyndra - The Obama Connection
http://www.zerohedge.com/contr...

It has nothing to do with more revenues from corporations and the population.  It is all about the politics of the government wastrels.  It seems that the magic Barry decided that sending $500,000,000 of money borrowed from China down that rathole was more important than NIH.

Avatar of:

Posts: 0

September 8, 2011

It is so sad to read about your lack of knowledge concerning energy company taxation.   The "Big Oil" companies get exactly the same tax treatment as other US corporations and based upon the US generated profits.

As to the lack of NIH funding, you might want to look how Barry is distributing the money from his stash.  The taxpayers will be taking it in the rear for about $500,000,000 of special loan guarantees to one of his pet projects that just went bankrupt.  Still unfolding but yiou can get some info on it here:
Soloyndra - The Obama Connection
http://www.zerohedge.com/contr...

It has nothing to do with more revenues from corporations and the population.  It is all about the politics of the government wastrels.  It seems that the magic Barry decided that sending $500,000,000 of money borrowed from China down that rathole was more important than NIH.

Avatar of: aaCharley

aaCharley

Posts: 1

September 8, 2011

It is so sad to read about your lack of knowledge concerning energy company taxation.   The "Big Oil" companies get exactly the same tax treatment as other US corporations and based upon the US generated profits.

As to the lack of NIH funding, you might want to look how Barry is distributing the money from his stash.  The taxpayers will be taking it in the rear for about $500,000,000 of special loan guarantees to one of his pet projects that just went bankrupt.  Still unfolding but yiou can get some info on it here:
Soloyndra - The Obama Connection
http://www.zerohedge.com/contr...

It has nothing to do with more revenues from corporations and the population.  It is all about the politics of the government wastrels.  It seems that the magic Barry decided that sending $500,000,000 of money borrowed from China down that rathole was more important than NIH.

Avatar of: puppet defender 9000

Anonymous

September 27, 2011

 - Before attacking someone else's "lack of knowledge" you probably should at least do some google searches to determine if your claims are at all justified. And in fact you are totally wrong Oil companies get special tax breaks just for being Oil companies ( http://money.cnn.com/2011/04/2... ). 

Exxon at this very moment is launching a PR campaign to convince the american people it pays lots of taxes. Since Exxon does not actually pay that much taxes they are willfully distorting statistics: http://money.cnn.com/2011/05/0...

Given that we are facing a very well funded marketing campaignby Exxon, it is reasonable to assume that Exxon will have a social media team including sock puppets ( http://en.wikipedia.org/wiki/S... ) on this and other forums. While I think aaCharley is probably not being paid by big oil lets keep our eyes open for Exxons sock puppets.

Avatar of:

Posts: 0

September 27, 2011

 - Before attacking someone else's "lack of knowledge" you probably should at least do some google searches to determine if your claims are at all justified. And in fact you are totally wrong Oil companies get special tax breaks just for being Oil companies ( http://money.cnn.com/2011/04/2... ). 

Exxon at this very moment is launching a PR campaign to convince the american people it pays lots of taxes. Since Exxon does not actually pay that much taxes they are willfully distorting statistics: http://money.cnn.com/2011/05/0...

Given that we are facing a very well funded marketing campaignby Exxon, it is reasonable to assume that Exxon will have a social media team including sock puppets ( http://en.wikipedia.org/wiki/S... ) on this and other forums. While I think aaCharley is probably not being paid by big oil lets keep our eyes open for Exxons sock puppets.

Avatar of:

Posts: 0

September 27, 2011

 - Before attacking someone else's "lack of knowledge" you probably should at least do some google searches to determine if your claims are at all justified. And in fact you are totally wrong Oil companies get special tax breaks just for being Oil companies ( http://money.cnn.com/2011/04/2... ). 

Exxon at this very moment is launching a PR campaign to convince the american people it pays lots of taxes. Since Exxon does not actually pay that much taxes they are willfully distorting statistics: http://money.cnn.com/2011/05/0...

Given that we are facing a very well funded marketing campaignby Exxon, it is reasonable to assume that Exxon will have a social media team including sock puppets ( http://en.wikipedia.org/wiki/S... ) on this and other forums. While I think aaCharley is probably not being paid by big oil lets keep our eyes open for Exxons sock puppets.

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