News Feature | July 7, 2014

NIH Names 6 Trial Sites In Undiagnosed Diseases Network (UDN)

By Estel Grace Masangkay

The National Institutes of Health (NIH) announced that it has named 6 medical centers across the U.S. to its Undiagnosed Diseases Network (UDN) in a four year, $43 million initiative to study difficult-to-solve medical cases and their diagnosis.

UDN will build on the NIH program at Bethesda that has assessed hundreds of patients to diagnose rare conditions using genomic approaches. Each of the six clinical sites will contribute medical expertise to the HIN UDN, conducting clinical trials and investigation in patients with prolonged undiagnosed conditions.

James M. Anderson, director of the NIH Division of Program Coordination, Planning, and Strategic Initiatives (DPCPSI), said, “The NIH Undiagnosed Diseases Network has the potential to transform medicine and serve as a catalyst for new discoveries. It is an ideal NIH Common Fund program — the only one focused on diagnoses of rare disorders.”

Undiagnosed diseases are mystery medical conditions that even physicians have difficulty properly diagnosing in spite of extensive clinical evaluation. These conditions may go unrecognized by doctors because they are rarely encountered in medical settings, have gone previously undescribed, or are rare forms of common diseases.

The six institutions were awarded $7.2 million each in grants by the NIH Common Fund to establish UDN clinical sites. These are:

  • Baylor College of Medicine, Houston; Principal Investigator: Brendan H.L. Lee, M.D., Ph.D.
  • Boston Children's Hospital, Brigham and Women's Hospital, and Massachusetts General Hospital, Boston; Principal Investigator: Joseph Loscalzo, M.D., Ph.D.
  • Duke University, Durham, North Carolina; Principal Investigators: Vandana Shashi, M.D. , and David B. Goldstein, Ph.D.
  • Stanford University, Stanford, California; Principal Investigators: Euan A. Ashley, M.D., D.Phil., Jonathan Bernstein, M.D., Ph.D., and Paul Graham Fisher, M.D.
  • University of California, Los Angeles; Principal Investigators: Eric J. Vilain, M.D., Ph.D., Katrina M. Dipple, M.D., Ph.D., Stanley Nelson, M.D., and Christina Palmer, C.G.C., Ph.D.
  • Vanderbilt University Medical Center, Nashville; Principal Investigators: John A. Phillips, III, M.D., and John H. Newman, M.D.

Through its inclusion of the six sites, the NIH UDN will facilitate greater collaboration and opportunities among a larger pool of expert lab and clinical investigators. UDN investigators will share patient genomic data with the research community while adhering to standards of patient privacy and health information management.

“We believe that there is a substantial unmet demand for the diagnoses of conditions that have perplexed skillful physicians. We want to address inquiries from physicians and patients throughout the country who require these services and, in doing so, create a 21st century model for diagnosis and treatment in this genomic and information-intensive era,” said Isaac Kohane, professor of pediatrics at Harvard Medical School and Boston Children’s Hospital and principal investigator of the Coordinating Center.

The network will launch and start operations in its first year, gradually expanding patient recruitment to reach its goal of 50 patients per year by 2017.