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NIH Expands Undiagnosed Diseases Network in Phase II

October 8, 2018
by David Raths, Contributing Editor
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Grant funding to increase network from seven to 12 clinical sites

The National Institutes of Health is committing approximately $100 million to expand the work of the Undiagnosed Diseases Network (UDN), which brings together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.

These grant funding will expand the UDN from seven to 12 clinical sites, increasing the geographical distribution of the nationwide network and the number of people with access to a UDN clinical site. Since opening to applications in 2015, the network has already diagnosed over 200 cases that had long been mysteries to the medical community.

“The UDN is pioneering a new personalized medicine model for helping those patients who have historically been the most difficult for the medical community to diagnose,” said James M. Anderson, M.D., Ph.D., director of NIH’s Division of Program Coordination, Planning, and Strategic Initiatives, in a prepared statement. His division provides financial support and joint leadership for the network via the NIH Common Fund. “By bringing together a nationwide network of top clinicians and laboratory researchers using the most up to date medical technology and knowledge, the UDN is able to provide hope to these patients, and in many cases discover a diagnosis,” he added.

Five new clinical sites will join the existing six academic clinical sites at Baylor College of Medicine, Houston; Duke University, Durham, North Carolina and Columbia University, New York City; Brigham and Women’s Hospital, Boston Children’s Hospital, and Massachusetts General Hospital at Harvard Medical School; Stanford Medicine, California; the University of California Los Angeles; Vanderbilt University Medical Center, Nashville, Tennessee; and the NIH UDP, Bethesda, Maryland from Phase I to make up Phase II of the UDN. The five new clinical sites are:

• Children’s Hospital of Philadelphia and the Hospital of University of Pennsylvania; Principal Investigators: Kathleen Sullivan, M.D., Ph.D. and Reed Pyeritz, M.D., Ph.D.

• University of Miami School of Medicine; Principal Investigators: Mustafa Tekin, M.D. and Stephan Zuchner, M.D., Ph.D.

• University of Utah, Salt Lake City; Principal Investigator: Lorenzo Botto, M.D.

• University of Washington School of Medicine, Seattle, and Seattle Children’s Hospital; Principal Investigators: Gail Jarvik, M.D., Ph.D. and Katrina Dipple, M.D., Ph.D.

• Washington University in St. Louis; Principal Investigator: Francis Sessions Cole, M.D.

Phase II of the UDN will also retain the coordinating center at Harvard Medical School and University of Alabama at Birmingham, the genome sequencing core at Baylor College of Medicine, and the model organism screening center at Baylor College of Medicine and the University of Oregon, Eugene. A complete list of funded awards can be found at

In addition to the new clinical sites, new research cores will be part of Phase II of the UDN. A new Metabolomics Core at the Mayo Clinic, Rochester, Minnesota, has been awarded (Principal Investigators: Ian Lanza, Ph.D. and Devin Oglesbee, Ph.D.) providing untargeted metabolomics and targeted biomarker analyses, and a new Model Organisms Screening Center at Washington University in St. Louis, (Principal Investigators: Lilianna Solnica-Krezel, Ph.D. and Tim Schedl, Ph.D.) increasing the zebrafish modeling capacity and adding C. elegans as a new model system for the UDN. 




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