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NIH expands its Undiagnosed Diseases Network


 

Seven new sites join the National Institutes of Health’s Clinical Center in the Undiagnosed Diseases Network.

The network expands the NIH focus on "the rarest of disorders, those that affect fewer than 50 people in the entire world," Dr. Eric Green, director of the National Human Genome Research Institute, said during a July 1 press conference. "They are so rare that they may never have been discovered or doctors may never have encountered them."

In addition to the current Bethesda, Md., site at the NIH Clinical Center, the following institutions are now involved:

• Baylor College of Medicine, Houston.

• Boston Children’s Hospital, Brigham and Women’s Hospital, and Massachusetts General Hospital.

• Duke University, Durham, N.C.

• Stanford (Calif.) University.

University of California, Los Angeles.

• Vanderbilt University Medical Center, Nashville, Tenn.

The NIH Common Fund, which finances projects that cross through multiple individual institutes, has committed more than $120 million over 5 years fund the sites, as well as a coordinating center, gene function studies, and core laboratories.

The expanded Undiagnosed Diseases Network (UDN) will be "accelerating discovery and innovation in the way we diagnose and treat patients with previously undiagnosed diseases," said Dr. James Anderson, director of the NIH Division of Program Coordination, Planning, and Strategic Initiatives. "We anticipate the UDN will create a new paradigm in medical diagnostics that will improve our understanding of rare disorders and also generate insight into human biochemistry and physiology of common diseases."

Patients who have undiagnosed conditions can apply to be seen by the program. If selected, patients will be brought into one of the centers in the network for a week-long testing program. Currently, about 3,100 patients have applied and 750 have been accepted; 60% are adults. Once fully operational, the new sites are each expected to see about 50 patients a year. Applications take about 8-12 weeks to be evaluated, and there currently is a waiting list of 2-6 months to be seen by the multidisciplinary diagnostic team.

Data collected from the patients in the program ultimately will be made available to researchers outside of the network, though protocols on how it will be shared are still being developed.

gtwachtman@frontlinemedcom.com

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