Six new sites recently joined the NIH’s Clinical Center in the Undiagnosed Diseases Network (UDN). The network expands the NIH focus on “the rarest of disorders,” said Eric D. Green, MD, PhD, Director of the National Human Genome Research Institute, during a July 1 press conference. The UDN addresses the most difficult-to-solve medical cases and strives to develop effective approaches to diagnose them.
In addition to the current site at the NIH Clinical Center in Bethesda, Maryland, and the Coordinating Center at Harvard Medical School in Boston, the following institutions are now involved:
• Boston Children’s Hospital, Brigham and Women’s Hospital, and Massachusetts General Hospital, Boston; principal investigator: Joseph Loscalzo, MD, PhD
• Duke University, Durham, North Carolina; principal investigators: Vandana Sashi, MD, and David B. Goldstein, PhD
• Stanford University, California; principal investigators: Euan A. Ashley, MD, DPhil, Jonathan Bernstein, MD, PhD, and Paul Graham Fisher, MD
• University of California, Los Angeles; principal investigators: Eric J. Vilain, MD, PhD, Katrina M. Dipple, MD, PhD, Stanley Nelson, MD, and Christina Palmer, CGC, PhD
• Vanderbilt University Medical Center, Nashville; principal investigators: John A. Phillips, III, MD, and John H. Newman, MD
The NIH Common Fund awarded four-year grants of approximately $7.2 million to each of the six centers. The new sites will conduct clinical evaluation and scientific investigation in cases that involve patients with prolonged undiagnosed conditions. Physicians within the network will collect and share clinical and laboratory data, including genomic information, clinical observations, and documentation of environmental exposures.
“Newly developed methods for genome sequencing now provide us amazingly powerful approaches for deciphering the causes of rare undiagnosed conditions,” said Dr. Green. “Along with robust clinical evaluations, genomics will play a central role in the UDN’s mission.”
The expanded UDN will be “accelerating discovery and innovation in the way we diagnose and treat patients with previously undiagnosed diseases,” added James M. Anderson, MD, PhD, 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 the program. If selected, patients will be brought into one of the network centers for week-long testing. 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 per year. Applications take about eight to 12 weeks to be evaluated, and there is a waiting list of two to six 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 the network, though protocols for data sharing are still being developed.
—Gregory Twachtman and Glenn S. Williams