Penn Center for Orphan Disease Research and Therapy: Second Round of Grants |
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February 25, 2014, Volume 60, No. 24 |
The Center for Orphan Disease Research and Therapy, based at the Perelman School of Medicine, University of Pennsylvania, has awarded its second round of funding for research on the development of improved therapies for patients with the lysosomal storage disorders MPS I, including Hurler, Hurler-Scheie and Scheie. Eight institutions—from academia, industry and the federal government—received the grants. Lysosomal storage disorders are a group of about 50 rare inherited metabolic disorders that result from defects in the lysosome, a component of the cell-waste-disposal system. These syndromes usually occur when there is a deficiency of a single enzyme required for the metabolism of lipids, sugar-containing proteins or other compounds.
To date, the Center has awarded over $4.4 million to researchers on rare diseases. So far these grants have focused on various lysosomal storage diseases. However, in the future the Center plans to broaden its research awards to other rare disease areas as resources permit. These awards have not been limited to the research communities of Penn and The Children’s Hospital of Philadelphia (CHOP), as the Center strives to broadly support rare disease research efforts nationally and internationally.
Orphan diseases represent a collection of disorders that afflict less than 200,000 individuals for any single disease type, yet there are more than 7,000 distinct orphan diseases. In all, over 25 million people in the United States suffer substantial morbidity and mortality from orphan diseases. Despite this huge number, research in most disease types has lagged far behind other major areas due to a combination of technological and funding limitations.
Recognizing these challenges, the Penn Center for Orphan Disease Research and Therapy was formed with the mission of facilitating and expediting the development of novel therapies for orphan diseases. The Center will achieve this mission through promoting development of novel therapeutic strategies and translating these into the clinic, building on partnerships among investigators, academic institutions, industry and federal and private funding agencies.
Membership in the Center provides:
• Connections between researchers and clinicians at Penn/CHOP and other intuitions who are working on orphan diseases
• Access to drug repurposing screens as well as small molecule screens
• Sources of funding for research on orphan diseases
• Access to small and large pharmaceutical companies to partner in the development of new therapeutics for orphan diseases
• Access to animal models of orphan diseases
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