New Program to Help Rare Disease Patients, Science

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New Program to Help Rare Disease Patients, Science

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NIH's Department of Mysteries

 

Three parts of the National Institutes of Health - the National Institute of

Human Genome Research, the NIH Office of Rare Diseases and the NIH Clinical

Center - are embarking on a joint venture that aims to diagnose patients with

ailments that have flummoxed their physicians and eluded diagnosis.

 

NIH Director Elias Zerhouni told reporters at a press conference that the

initiative, which officially is called the Undiagnosed Diseases Program, aims

to benefit patients and basic research alike: " We believe that there is not

only a service to be rendered, but also knowledge to be gained. "

 

The NIH already has a mechanism in place for trying to help patients with

elusive diagnoses, but the new program will be more comprehensive. Currently,

Zerhouni explains, " if a patient calls in, they are triaged to a specific

protocol " of one of the NIH teams studying specific rare diseases. In the new

program, specialists from more than two dozen fields - including obvious ones

like neurology, immunology and hematology, but also perhaps more surprising

ones like mental and dental health - will review each case.

 

Zerhouni said that recent technology advantages have meant that the time is

ripe for a large-scale attempt at undiagnosed diseases. " That bridge couldn't

be crossed 10 or 15 years ago, because we didn't have the tools, " he said.

 

In the era of genomics and proteomics, the problem has shifted. Now the

tools are there, but in the short term that also has meant that " we have many

markers that have been discovered, the significance of which is not always

clear, " Zerhouni said.

 

William Gahl, clinical director at the National Human Genome Research

Institute, added that the program " doesn't just go one way - that is, research

to

translational and patient care - it also goes the opposite way, with patients

being seen enlightening us with respect to what the basic defect is and

what's going on in terms of the physiology and cell biology. "

 

An excellent case in point was the disease history of Amanda Young, a

patient who was diagnosed by a physician in the NIH Clinical Center. Young is

extremely susceptible to life-threatening infections, for reasons that baffled

the

doctors who saw her. " Even after years of trying, no one could give me a

name, or a reason, why my life was threatened again and again, " she told

reporters at the press briefing.

 

At the NIH Clinical Center, Young ultimately was diagnosed with a mutation

in the IRAK4 gene, which ultimately led to a low white blood cell count.

Though the pathway had not been discovered at the time, it is now apparent that

IRAK4 is important downstream of Toll-like receptors. The hope is that the

Undiagnosed Diseases Program will help connect more genetic mutations to their

effects.

 

On a more fine-grained timescale, NIH Office of Rare Diseases Director

Stephen Groft told reporters that the launch of the program is " coincident with

a

number of other events that are meaningful to the entire rare diseases

community. " A conference on rare disorders is being held in Washington this

week,

which also marks the 25th anniversary of both the establishment of the

National Organization for Rare Disorders and the Orphan Drug Act. (See related

story

in this issue.)

 

Zerhouni said that though mysterious diseases are sometimes the first few

cases of an emerging disease, in many cases a mysterious disease will turn out

to be " known but rare. " Though the underlying pathology of some common

diseases, like chronic fatigue syndrome, also means that a diagnosis is little

more

than a name to attach to a condition, common diseases are not often a

diagnostic puzzle. Mysterious diseases tend to be rare by their very nature.

 

Zerhouni also pointed to emerging diseases as an area where the Undiagnosed

Diseases Program might come in handy as an early warning system of sorts.

 

Additionally, he said, common disorders also are becoming more challenging

to diagnose, as their molecular underpinnings are worked out in greater

detail: " Even common diseases have many subtypes, " he said, giving the example

of

diabetes. To date, 16 genes associated with differential risk have been

discovered, and it is likely that those genes - or others yet to be discovered

-

explain why some cases of diabetes appear to be much harder to treat than

others.

 

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