An effort at the US National Institutes of Health (NIH) to diagnose mysterious ailments is expanding. Representatives of the Undiagnosed Diseases Program (UDP), administered by the Institute (NHGRI) of the NIH National Human Genome Research, announced today that six medical centers will join the program, the formation of a network of clinical sites to investigate on refractory cases of patients across the country. The program aims to provide patients with a diagnosis and treatment as sometimes waited while building data for scientists studying the genetic basis of rare diseases
The new sites-Baylor College of Medicine. Harvard teaching hospitals (Boston children, of Brigham and Women, and the Massachusetts General); Duke University; Stanford University; the University of California, Los Angeles; and the Centre will Vanderbilt University Medical each receive a 4-year grant of approximately $ 7.2 million to participate. As the NIH Clinical Center in Bethesda, Maryland, who served as a pilot site, the centers host the patients for about a week at a time, performing many clinical tests and genetic sequencing to search for an explanation of their symptoms.
Harvard Medical School in Boston, who received an award of $ 9 million in January to act as a "focal point" facilitate collaboration between researchers and will make the data widely available to patients through public deposits such as the NIH database of genotypes and phenotypes, said Anastasia Wise, director of the genomic medicine NHGRI Division, at a press conference today .
since the program launched in May 08, he received requests for about 30 patients, 750 who were selected for the study. "There was never a shortage of references to the program," said UDP Director William Gahl today. (Indeed, in 2011, the program temporarily stopped accepting applications to catch the flood of inquiries.) The roadmap program for medical sleuthing depends on how you define a diagnosis, Gahl said. Between 25% and 50% of cases are considered "solved" based on clinical diagnosis, molecular, biochemical or so about a quarter are closed without reply. "You can see that this is hard work, in which we fail sometimes," he added.
The program now admits about 150 patients a year at the NIH Clinical Center, but plans to host 50 per year to each of the seven sites by summer 2017.
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