PHILADELPHIA —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

Penn Medicine is one of the world's leading academic medical centers, dedicated to the related missions of medical education, biomedical research, and excellence in patient care. Penn Medicine consists of the Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania (founded in 1765 as the nation's first medical school) and the University of Pennsylvania Health System, which together form a $5.3 billion enterprise.

The Perelman School of Medicine has been ranked among the top five medical schools in the United States for the past 18 years, according to U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $373 million awarded in the 2015 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania and Penn Presbyterian Medical Center -- which are recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report -- Chester County Hospital; Lancaster General Health; Penn Wissahickon Hospice; and Pennsylvania Hospital -- the nation's first hospital, founded in 1751. Additional affiliated inpatient care facilities and services throughout the Philadelphia region include Chestnut Hill Hospital and Good Shepherd Penn Partners, a partnership between Good Shepherd Rehabilitation Network and Penn Medicine.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2015, Penn Medicine provided $253.3 million to benefit our community.

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