Duke Named to National Network Studying Rare Diseases

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By Duke Medicine News and Communications

DURHAM, N.C. – Duke University is one of six new clinical sites in the country that will participate in a recenty formed Undiagnosed Diseases Network established by the National Institutes of Health.

The network is designed to advance the understanding of some of the most difficult-to-solve medical mysteries and develop effective approaches to diagnose them.

Duke and the other five new clinical sites will each receive grants totaling approximately $7.2 million over four years to evaluate and investigate cases that involve patients with prolonged, undiagnosed conditions. The principal investigators at Duke are Vandana Shashi, M.D., and David Goldstein, Ph.D.

Undiagnosed diseases are conditions that even skilled physicians cannot diagnose despite extensive clinical investigation. Doctors may not recognize them because they are rarely seen, are little understood, or are rare forms of more common diseases.

“Patients and families shoulder a huge burden medically, emotionally and financially while pursuing a specific diagnosis of a rare disorder,” Shashi said. “Duke’s participation in this network and our prior experience with rare disorders will enable us to provide diagnostic resolution, information relevant to other family members and potentially new treatment options to many such patients and their families.”

Each clinical site will contribute local medical expertise to the newly formed Undiagnosed Diseases Network, which builds upon and includes the NIH’s Undiagnosed Diseases Program. That program, which began in 2008, has enrolled approximately 600 undiagnosed children and adults in clinical protocols. Using a combination of genomic and clinical analyses, the multidisciplinary clinical and research effort diagnosed approximately 100 patients (up to 25 percent of those evaluated), discovered two unknown diseases and identified 15 genes not previously associated with any other human disease.

By including an additional six clinical sites, the Undiagnosed Diseases Network will both draw upon the unique expertise of new clinical research groups and cultivate opportunities for collaboration among a larger group of expert laboratory and clinical investigators. Physicians within the network will collect and share high-quality clinical and laboratory data, including genomic information, clinical observations and documentation of environmental exposures. They also will benefit from common protocols designed to improve the level of diagnosis and care for patients with undiagnosed diseases.

“At Duke, we have been running a formal sequencing clinic for several years now and this experience has taught us how important it can be to think hard about each and every patient genome, and to consider their genomes carefully in the context of their specific clinical presentations,” Goldstein said. “This is the exact philosophy embodied in the UDN, and we are eager to participate in a project that we hope will help to change the way genomics is used in the study of rare serious diseases.”

In addition to Duke, the other newly designated clinical sites are Baylor College of Medicine; Harvard Teaching Hospitals through the Boston Children's Hospital, Brigham and Women's Hospital, and Massachusetts General Hospital; Stanford University; the University of California, Los Angeles; and Vanderbilt University Medical Center.


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