Miller School Becomes a Site for NIH’s Undiagnosed Diseases Network

The University of Miami Miller School of Medicine is among five new academic medical sites across the nation that have joined the National Institutes of Health’s (NIH) Undiagnosed Diseases Network (UDN) and been awarded a grant by the agency to improve and accelerate the diagnosis of rare and undiagnosed conditions. The new awards, announced September 24, are part of the second phase of the agency’s expansion of the network.

Renowned genome and genetics experts and physician-researchers with the Miller School and the University of Miami Health System have been helping patients with rare and undiagnosed diseases for more than 10 years. Being part of the prestigious NIH network will provide site experts with a wider pool of knowledge from which to help diagnose and treat this sub-section of patients.

“The term ‘undiagnosed disease’ refers to the rarest of rare diseases, often with unusual symptoms and little to no medical knowledge or explanation to provide an accurate diagnosis,” said Mustafa Tekin, M.D. a lead researcher with UM’s UDN program and a professor in the Dr. John T. MacDonald Foundation Department of Human Genetics.

“The purpose of the program is to work collaboratively with other UDN sites to diagnose such patients using the latest testing and scientific knowledge available,” said Dr. Tekin.

As part of the program, patients will be seen by UM clinicians and genetics experts, who will perform in-depth and comprehensive clinical examinations, as well as cutting-edge genomics investigations, including whole genome sequencing. Members of UDN will collectively discuss each case in great depth.

Having cases discussed by a group of experts and physician-scientists “is the art and science of diagnosing a disease,” said Dr. Tekin. Researchers at UDN, he said, can study gene mutations resulting from UDN participants in model systems. He noted that UM researchers, such as Grace Zhai, Ph.D., associate professor of molecular and cellular pharmacology, have already been involved in modeling UDN rare mutations.

Stephan Züchner, M.D., Ph.D., a renowned genetics expert at the Miller School, chair of the Dr. John T. Macdonald Foundation Department of Human Genetics and co-director of the John P. Hussman Institute for Human Genomics, will co-lead the UM-UDN site.

“Being part of UDN is a big milestone for the already exceptional, and internationally acknowledged, rare disease genetic programs at the University of Miami,” said Dr. Züchner. “Finding the precise causes of disease paves the way for new treatments, especially gene therapy approaches, and we are increasingly optimistic about being able to provide treatments for many patients with rare diseases in the foreseeable future.”

Clinical expertise in all medical specialties offered at the University of Miami Health System and Miller School will contribute to solving diagnostic dilemmas in cases with undiagnosed diseases.

Researchers in the UM-UDN site from specialties other than genetics include Judy Schaechter, M.D., MBA, professor and chair of pediatrics; Olveen Carrasquillo, M.D., MPH, professor of public health sciences and chief of the Miller School’s Division of General Internal Medicine; Alana L. Grajewski, M.D., professor of clinical ophthalmology; Byron Lam, M.D., professor of ophthalmology and holder of the Robert Z. and Nancy J. Greene Chair in ophthalmology; Peter Chang, M.D., assistant professor of clinical ophthalmology; Fred Telischi, M.D., MEE, chairman, professor and James R. Chandler Chair of Otolaryngology; Xue Zhong Liu, M.D., Ph.D., professor of otolaryngology, human genetics, biochemistry, and pediatrics; Roy C. Levitt, M.D. of anesthesiology; Mario Saporta, M.D., Ph.D., MBA, assistant professor of neurology and human genetics and Ralph L. Sacco, M.D., MS, executive director of the McKnight Brain Institute, professor and chair of neurology, Olemberg Chair in Neurological Disorders, senior associate dean for clinical and translational science, and director of UM’s Clinical and Translational Science Institute.

The NIH’s total investment planned for the UDN over the next four years will be approximately $100 million, pending the availability of funds.

These grants 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 more than 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 (DPCPSI), which 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.”

The UDN was launched to build on the success of the Undiagnosed Diseases Program at the NIH Clinical Center.

“The UDN takes advantage of cutting-edge technologies such as genomic sequencing, metabolomics and assessing patient genetic variants in model organisms to give clinicians new, powerful information to help understand the cause of extremely rare diseases,” said Anastasia L. Wise, Ph.D., program director for the UDN in the National Human Genome Research Institute’s Division of Genomic Medicine.

In addition to UM, the 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 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.

The 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; plus the NIH UDP, Bethesda, Maryland from Phase I to make up Phase II of the UDN.

The UDN awards are managed by NHGRI, the National Center for Advancing Translational Sciences, and the National Institute of Neurological Disorders and Stroke.

More information about the UDN program is available here.

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