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, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System and Penn’s Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation’s first medical school.
The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $550 million awarded in the 2022 fiscal year. Home to a proud history of “firsts” in medicine, Penn Medicine teams have pioneered discoveries and innovations that have shaped modern medicine, including recent breakthroughs such as CAR T cell therapy for cancer and the mRNA technology used in COVID-19 vaccines.
The University of Pennsylvania Health System’s patient care facilities stretch from the Susquehanna River in Pennsylvania to the New Jersey shore. These include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Lancaster General Health, Penn Medicine Princeton Health, and Pennsylvania Hospital—the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.
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