Content tagged "rare diseases":

Beverly L. Davidson, PhD

Professor of Pathology and Laboratory Medicine
Professor of Genetics
Perelman School of Medicine at the University of Pennsylvania 

Chief Scientific Strategy Officer 
Director, Raymond G. Perelman Center for Cellular and Molecular Therapeutics
Katherine A High Presidential Scholar Endowed Chair in Cell and Gene Therapy
Children’s Hospital of Philadelphia (CHOP)

Lambris Lab

The Lambris Lab consists of an international and interdisciplinary team that investigates the various aspects of innate immunity, and particularly the complement system, in health and disease. The integrated research approach encompasses projects such as the quantitative analysis of protein-protein interactions of complement components, the development of therapeutic complement inhibitors (e.g. Compstatin), complement evasion by human pathogens, and the role of complement in liver regeneration and cancer development.

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Orphan Status for Rare Blood Disorder Drug Developed by the Lambris Lab

August 28, 2014

A drug developed by the Lambris Lab has received orphan status in Europe for the treatment of paroxysmal nocturnal hemoglobinuria (PNH), a rare, life-threatening disease that causes anemia due to destruction of red blood cells and thrombosis.

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Gene Therapy Approach for New Treatment of Rare Disease MPS I

August 28, 2014

The lab of James M. Wilson, MD, PhD, director of the Penn Gene Therapy Program, has published a proof-of-principle animal study that reduces harmful accumulation of proteins in a rare lysosomal storage disease through direct gene therapy.

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New Penn Medicine/CHOP Friedreich’s Ataxia Center of Excellence

March 05, 2014

A generous $3.25 million gift, a donation from the nonprofit organization Friedreich's Ataxia Research Alliance (FARA) in partnership with the Hamilton and Finneran families, has created the new Penn Medicine/CHOP Friedreich’s Ataxia Center of Excellence. The FA Center of Excellence will be co-directed by David Lynch, MD, PhD, FA program director at CHOP, and Robert B. Wilson, MD, PhD, professor of Pathology and Laboratory Medicine at the Perelman School of Medicine.

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