Duke named to national network studying rare diseases

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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, MD, associate professor of pediatrics, and David Goldstein, PhD, professor of molecular genetics and microbiology and biology and director of the Center for Human Genome Variation at Duke. “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.” 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. Read the full news release and coverage in the News & Observer.

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