NEW YORK (GenomeWeb News) – In an effort to discover and find the causes for a variety of undiagnosed diseases, the National Institutes of Health plans to start a new program that will bring to bear the knowledge and resources of its many institutes, including those focused on genomics and proteomics, on patients who have uncommon or unknown conditions.
The trans-NIH Undiagnosed Diseases Program “will aim to provide answers to patients with mysterious conditions that have long eluded diagnosis,” NIH said in a statement today, and it will “focus on the most puzzling medical cases” that are referred to the NIH Clinical Center.
NIH Director Elias Zerhouni said that “the history of biomedical research has taught us that careful study of baffling cases can provide new insights into the mechanisms of disease — both rare and common."
“The reason we’re doing this now is because of the many advances of the last five years, the new techniques of proteomics, genomics,” Zerhouni elaborated this morning in a conference call. “That’s the significance of this effort. Using the tools that come out of the lab” to apply to human diseases, he added.
The UDP will use existing staff and facilities at the NIH Clinical Center, the National Human Genome Research Institute, and the NIH Office of Rare Diseases, and will see around 100 patients each year who have been referred by physicians.
The program will be directed by William Gahl, who also is clinical director at NHGRI, and it will include a group of over 25 senior attending physicians from various fields who will evaluate and review patients’ cases.
“We expect this program will create many new articles, new science, and new treatments,” Gahl said in this morning’s conference call. “This program will offer real hope,” Gahl added, “but it is a research program.”
Cases will be submitted by physicians, and a review panel will decide if they are right for the UDP, Gahl said.
The project is funded with $280,000 per year so far from the Office of Rare Diseases, and Gahl said that ORD funding is scheduled to last for four years.
That may sound like a small amount of funding to run an NIH program, but Gahl explained to GenomeWeb Daily News that the UDP will primarily be using resources, technology, and expertise already within the institutes.
Gahl also said he thinks this program could be expanded even before the four-year period is up if “we have a long line of people waiting” to join the program, and “because people believe in this enough,” he said.
Highlighting the sort of diseases that have been diagnosed only in recent years, former NIH Clinical Center patient Amanda Young told reporters about how her disorder took over 10 years to diagnose. The 26-year old woman from Conyers, Ga., explained that a condition she had her entire life left her vulnerable to life-threatening conditions over and over again.
Aside from a low white-blood cell count, Young said her immune system appeared normal. Young said she had spinal meningitis three times as a child. At age eight, an infection that began as a scratch proceeded to hospitalization, and then to amputation of her leg and hip in a dramatic move to save her life.
Young explained that close research conducted by NIH and other scientists eventually determined that she has an IRAK 4 protein mutation. While there is as yet no treatment or cure for her specific disease, she said, there is great value for her in knowing now that it has a name, and that it is a real disease that is now being researched.
This is exactly the kind of disease that this program has in its sights, Gahl told GWDN. Gahl’s area of expertise is rare genetic diseases, and he said he expects genetics and genomics could play a large role in finding out what is behind these patients’ diseases.
Gahl said the program plans to put both clinical and lab information into a database, and that in the future it will be able to scan and compare genetic information as well as medical records and test results in the database with others.
“I think if we were to see five different people who have a similar rare disease,” Gahl said, “we also could go back and ask to get DNA samples from other members of their family” in the hunt for genetic links to the disease.
"We hope that this new partnership … will give hope for many Americans who now face troubling medical symptoms with no clear diagnosis," said Stephen Goft, the director of the NIH’s ORD and a founder of the new program.