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The National Institutes of Health recently launched the Undiagnosed Diseases Program, a clinical research initiative linking NHGRI, the Office of Rare Diseases, and the NIH Clinical Center. NHGRI's clinical director, William Gahl, will serve as director of the new unit. GT's Meredith Salisbury caught up with him to find out more about the program, which aims to serve annually as many as 100 patients with longstanding, undiagnosed illnesses. Demand will likely be much higher, though: Gahl reported that in the first two and a half days following the program announcement, NIH received 125 inquiries from patients looking to be included.

Genome Technology: How did the idea for this program come about?

William Gahl: The NIH has had individual investigators who study unknown diagnoses within their own area of interest for a long time. This differs because it's very generic — in other words, you don't have to have a specific area that's affected and then go to [a specialist.] In this case, you know you just have something that may have a lot of different symptoms. You don't know what doctor to go to, and we figure that out.

The Office of Rare Diseases receives all sorts of inquiries about this disease, that disease. The people who are inquiring are inquiring about where they can go to get a diagnosis. That prompted the Office of Rare Diseases to invest in this type of a program, and then we in the intramural portion of the NIH serve as the conduit for that venture.

GT: NHGRI's involvement in the program points to specific attention to genomic technologies being used in this. Why is that?

WG: We're able now to eliminate many, many diagnoses and sometimes to identify the causative agent because we're able to identify the genes. Technically we have a lot more ability, and especially over the last five, 10 years, many of the syndromes and disorders that have no known basis now have a molecular basis. When that happens you can look for mutations in the causative gene and then either rule it in or rule it out as the cause. So that's an enormous advance and gives us all sorts of weapons.

GT: Are there specific tools that will be used in trying to make these diagnoses?

WG: We'll use what's available in terms of mutation analysis and sequencing, and we might use some further advances that aren't broadly used in the genetics and medical community — sequencing of genes has become enormously faster and cheaper and we have access to that here. [The tools] will also be customized to a particular case.

GT: With all the groups involved in the program, where exactly does it live within NIH?

WG: The support is from the Office of Rare Diseases, but it's being administratively conducted by NHGRI because we have access to the Clinical Center and the Office of Rare Diseases doesn't [divisions within the NIH's Office of the Director cannot use the clinic]. They need an arm with access to the Clinical Center, and NHGRI is that arm. The Clinical Center is making some contributions to this too — they're supplying office space for the nurse practitioners that we hired and clinic space.

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