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Forty years after the Orphan Drug Act passed, researchers advance drug development for neglected rare conditions everywhere from the lab bench to backstage.
A pioneer in the field of orphan diseases and gene therapy, James M. Wilson, MD, PhD, reflects on 10 years of leading Penn’s Orphan Disease Center.
Foteini Mourkioti, PhD, an assistant professor of Orthopaedic Surgery and of Cell and Developmental Biology, and co-director of the Musculoskeletal Regeneration Program in the Penn Institute for Regenerative Medicine, is leading one of only four animal studies awarded a new research grant from NASA. The agency has awarded 15 grants for new space biology research designed to help achieve NASA’s goals under the Artemis lunar exploration program. Teams of investigators will use state-of-the-art genetic and other biological techniques to explore how life adapts and changes during spaceflight, and the results could help support human exploration of the Moon, and ultimately, Mars. Mourkioti’s work will investigate how space-flight-like conditions impact telomere length in muscle stem cells and how that impacts muscle atrophy.
Two years ago, I heard an inspiring talk by a remarkable patient and medical professor — David Fajgenbaum. David was a third-year medical student in 2010 when he was struck with a rare disease called “idiopathic Multicentric Castleman disease” that sent his immune system into hyper-drive, causing his organs to shut down. David survived, but suffered a series of relapses over the next few years that each time brought him to the brink of death.
CRANBURY, N.J. and PHILADELPHIA, Feb. 26, 2019 (GLOBE NEWSWIRE) -- Amicus Therapeutics today announced it is establishing a new Global Research and Gene Therapy Center of Excellence in uCity Square in Philadelphia, PA, to advance its commitment to world-class science that makes a meaningful difference in the lives of people living with rare metabolic diseases.
In preclinical studies using cell models that mimicked liver cells of patients with the rare disease Friedreich’s ataxia (FA), a widely used cholesterol-lowering drug increased a precursor of HDL (high-density lipoprotein), the “good cholesterol,” according to new research published in PLOS One from the Perelman School of Medicine at the University of Pennsylvania.
TRUMBULL, CT — The Rett Syndrome Research Trust (RSRT) is pleased to announce that James Wilson, MD, PhD, director of the University of Pennsylvania Gene Therapy Program and the Rose H. Weiss Orphan Disease Center, has joined our Gene Therapy Consortium.
David Fajgenbaum, a 32-year-old doctor at the University of Pennsylvania, is racing to find a cure for Castleman disease, an illness that’s “like a mix between an autoimmune disease and a cancer.” Fajgenbaum is not only devoting his life to this cause for other patients – he’s been battling the rare and deadly disease himself since 2010. TODAY’s Dylan Dreyer has this week’s Sunday Spotlight.
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