NIH to study diseases that elude diagnosis

By Julie Steenhuysen

CHICAGO (Reuters) - Government researchers plan to study baffling diseases that defy diagnosis as part of a new research program that could give insight into conditions both rare and common, they said on Monday.

The cross-specialty program at the National Institutes of Health will focus on the medical cases have stumped doctors, and will start taking the first patients in July.

"More and more we are seeing new manifestations of diseases, new causes of disease and diseases that are completely not understood at this point," NIH Director Dr. Elias Zerhouni said in a telephone briefing.

Zerhouni said the center will offer an opportunity to advance scientific understanding of disease in its early stages and to apply new genetic research tools in a way that would not have been possible a decade ago.

"For the first time, we will combine tools that have come out of the labs to human disease. That bridge could not be crossed 10 to 15 years ago because we didn't have the tools," Zerhouni told the briefing.

Zerhouni said the program will also offer hope to families who often have exhausted all other options.

"Sometimes, it takes a year or two to find out what ails a young child. That we cannot afford anymore because by the time has passed, damage has been done. We need to preempt disease, and this is where I think we will learn how to do that," Zerhouni said.

Amanda Young, a 26-year-old NIH Clinical Center patient, told the briefing how important a diagnosis was to her.

Common childhood infections made her dangerously ill. A simple scratch on the leg resulted in an infection that forced the amputation of her leg and hip. It was 10 years before doctors diagnosed the cause, a rare genetic disorder in which her body does not make a protein important for recognizing and defending itself from infections.

"All we ever wanted was for my disease to have a name -- for someone to tell me what was wrong," Young said.

NIH officials expect most patients accepted to the program will be from United States, but patients from outside the United States will be considered under certain circumstances.

The expected 100 patients enrolled each year must be referred by their doctors or other health care providers.

"We have developed a stringent referral process to ensure this program deals with those cases that have truly confounded medical experts," said Dr. William Gahl, clinical director at the NIH's National Human Genome Research Institute.

A multidisciplinary team of 25 physicians from medical specialties ranging from cancer and heart disease to genetics and dentistry will evaluate patient medical records and any tests that offer some clue about what might be wrong or why the case is so puzzling.

(Editing by Will Dunham and Jackie Frank)