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Penn Receives $10 Million to Create Center for Orphan Disease Research and Therapy

PHILADELPHIA — The Raymond and Ruth Perelman School of Medicine at the University of Pennsylvania announces the launching of a first-of-its-kind interdisciplinary center focused on discovering novel treatments for orphan diseases. The Center will bring together, without institutional walls, all necessary approaches to attacking and treating orphan diseases: establishing dedicated research support facilities, translating findings into therapies, fostering targeted grant awards, and educating physicians and researchers.

Formation of the new Penn Center for Orphan Disease Research and Therapy was catalyzed by a $10 million gift from an anonymous donor, whose vision matched that of Penn Medicine in developing treatments for these diseases. The Center will fill a crucial need by providing the core laboratories, techniques, collaborative relationships, and expertise to lead an international, coordinated effort in the eradication of orphan diseases. Key among these resources is a state-of-the-art, robotically controlled drug screening laboratory that enables researchers from around the world to rapidly probe existing compound libraries for effective, orphan disease treatments.

Diseases are classified as orphan when they affect fewer than 200,000 people. However, as there are approximately 7,000 diseases now identified in this population, more than 25 million Americans are currently afflicted. Many of these diseases are caused by genetic mutations and are diagnosed in children. Research in many orphan diseases has lagged behind other major disease categories, such as diabetes and cardiovascular disease, in part because of a relative lack of technical expertise and funding mechanisms. Penn's Center will specifically address these needs.

"The research and development marketplace is not designed to optimally support research to develop the therapies so desperately needed for orphan diseases," explains Glen N. Gaulton, Ph.D., Executive Vice Dean and Chief Scientific Officer at the Perelman School. "Penn's new Center for Orphan Disease Research and Therapy will build not only strong collaborative relationships throughout Penn, but also with other leading academic medical centers, as well as public and private institutions—all designed to translate innovative research into the clinic. There's simply nothing else like it."

"This is a wonderful example of philanthropy in action," says J. Larry Jameson, M.D., Ph.D., Executive Vice President for the Health System and Dean of the Perelman School of Medicine. "The Center will be a natural extension of Penn's expertise in orphan diseases, and this strategic investment will galvanize support for orphan disease research around the globe. I am proud that Penn Medicine is taking a clear leadership position in transforming the health of millions."

Jameson adds that he is delighted that his predecessor, former Perelman School Dean Arthur H. Rubenstein, MBBCh, has agreed to serve as special advisor to the Center during the first several months, which will include overseeing the search for the Center's first Director.

The Center will be a nexus for connecting:

  • Researchers and clinicians at Penn with other public and private institutions to work on projects aimed at finding and testing treatments for orphan diseases;
  • Approaches to treatment that are common among various orphan diseases;
  • Researchers with organizations that fund biomedical research for orphan diseases; and
  • Investigators within small and large pharmaceutical firms to develop and test treatments for orphan diseases.

Working together with other academic institutions, the National Institutes of Health, Pharma, and private philanthropy, the Center aims to reduce dramatically the technological and financial burden of investigators working in isolation by supporting a range of collaborative approaches:

  • Robotics for large-scale drug screening,
  • Biospecimen repositories to store samples,
  • Genotyping and bioinformatics services to identify causative genes,
  • Cell-based systems for developing new tests,
  • Nano-scale systems for developing new ways to deliver drugs, and
  • Small and large animal models for testing potential treatments.

 

The Perelman School of Medicine is currently ranked #2 in 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 $479.3 million awarded in the 2011 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top "Honor Roll" hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital — the nation's first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2011, Penn Medicine provided $854 million to benefit our community.

Source http://www.uphs.upenn.edu/news/News_Releases/2011/07/orphan/

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