NIH Expands Undiagnosed Diseases Network with Clinical Sites, Core Labs

September 28, 2018
NIH Expands Undiagnosed Diseases Network with Clinical Sites, Core Labs
The NIH is expanding its Undiagnosed Diseases Network (UDN) with five new clinical sites, including one at the • University of Washington School of Medicine, Seattle, and Seattle Children’s Hospital. Among that site's lead physicians are (front row) Gail Jarvik, M.D., Katrina Dipple, M.D., and Fuki Hisama, M.D. , (back row) Sirisak Chanprasert, M.D., and Ian Glass, M.D. [Source: UW Medicine, University of Washington]

The NIH said it has awarded research grants to five academic medical centers toward creation of new clinical sites, in an expansion of its Undiagnosed Diseases Network (UDN) that will include a new metabolomics core, and increased model organism capabilities.

The grants are intended to help the new sites improve and accelerate the diagnosis of rare and undiagnosed conditions, the agency said—and were made as part of the second phase of the UDN, to which the NIH has committed a total approximately $100 million over four years.

The expansion builds upon the UDN’s existing seven clinical sites. The UDN has diagnosed more than 200 cases that had long been mysteries to the medical community since the network was opened to applications in 2015, according to the NIH.

“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,” James M. Anderson, M.D., Ph.D., director of NIH’s Division of Program Coordination, Planning, and Strategic Initiatives, said in a statement.

The complete list of funded awards can be found here.

The five new clinical sites are:

  • Children’s Hospital of Philadelphia and the Hospital of University of Pennsylvania. Principal investigators (PIs) are Kathleen Sullivan, M.D., Ph.D. and Reed Pyeritz, M.D., Ph.D.
  • University of Miami School of Medicine. PI: Mustafa Tekin, M.D. and Stephan Zuchner, M.D., Ph.D.
  • University of Utah, Salt Lake City. PI: Lorenzo Botto, M.D.
  • University of Washington School of Medicine, Seattle, and Seattle Children’s Hospital. PIs: Gail Jarvik, M.D., Ph.D. and Katrina Dipple, M.D., Ph.D.
  • Washington University in St. Louis. PI: Francis Sessions Cole, M.D.

In addition to the new clinical sites, the Phase II expansion of the UDN includes two new research cores. One is a metabolomics core at the Mayo Clinic, Rochester, MN, awarded to PIs Ian Lanza, Ph.D. and Devin Oglesbee, Ph.D. The core is designed to provide untargeted metabolomics and targeted biomarker analyses, the NIH said.

The other new core will be a Model Organisms Screening Center at Washington University in St. Louis, awarded to PIs Lilianna Solnica-Krezel, Ph.D. and Tim Schedl, Ph.D. The center will work to increase zebrafish modeling capacity and add C. elegans as a new model system for the UDN.

The new clinical sites and core labs join the network’s existing six academic clinical sites at Baylor College of Medicine; Duke University and Columbia University; Brigham and Women’s Hospital, Boston Children’s Hospital, and Massachusetts General Hospital at Harvard Medical School; Stanford Medicine; University of California, Los Angeles; Vanderbilt University Medical Center; and the NIH UDP in Bethesda, MD.

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.

The UDN awards are managed by the NIH’s National Human Genome Research Institute (NHGRI), the NIH’s National Center for Advancing Translational Sciences (NCATS), and the NIH’s National Institute of Neurological Disorders and Stroke.

“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,” Dr. Anderson added.