WEDNESDAY, Oct. 26 (HealthDay News) -- A sibling pair with a puzzling condition that made even walking a short distance an agony; a 20-year-old man with a rare respiratory ailment forcing him to live on a ventilator; a woman with a potentially fatal buildup of a protein in her muscles -- all rare cases that were difficult to diagnose, let alone treat.
And yet all of these patients, and dozens more, have had their "mystery" illnesses properly diagnosed and, in some cases, treated, through work done at a "clinic of last resort" run by the U.S. National Institutes of Health (NIH).
Researchers at the NIH's Undiagnosed Diseases Program (UDP) in Bethesda, Md., say that since the program's inception two years back, they've made considerable headway in unraveling complex medical riddles like these that have puzzled patients and physicians alike.
"We're talking about patients who have gone a long, long time without any diagnosis," noted UDP director Dr. William A. Gahl, who is also clinical director of the National Human Genome Research Institute (NHGRI). "These are patients who have already been seen at one of the country's major health facilities -- sometimes all of them -- but have had no success."
Established in 2008, the UDP has taken on the cases of 326 patients out of a pool of nearly 1,200 applicants.
Of these, 39 have gone on to see their cases "solved." This, Gahl and his colleagues explain, means that after an exhaustive investigation, doctors have reached a definitive diagnosis.
The program's access to cutting-edge genetics technologies has been key to its success, Gahl said. "[We] offer something others can't: greater in-depth in-patient access to first-generation genetics on a wide scale," he said.
Writing in a recent issue of Genetics in Medicine, Gahl and his colleagues detailed the UDP's objectives and achievements to date, descri
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