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Posts tagged University of Pennsylvania

Ophthotech to Boost Development of Gene Therapy for Best Disease

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Ophthotech Corporation, a biopharmaceutical company focused on the development of therapies for orphan retinal diseases and age-related macular degeneration, has announced an evolving, commercial partnership with the University of Pennsylvania and University of Florida to develop a gene therapy for Best disease caused by BEST1 mutations.
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FFB Convenes Experts to Discuss Therapeutic Opportunities for Stargardt Disease

Meeting presenters (left to right): Philip Rosenfeld, MD, PhD; Ilyas Washington, PhD; Peter Charbel Issa, MD, PhD; Elias Traboulsi, MD, MEd; Ulrich Schraermeyer, PhD; Carel Hoyng, PhD; Paul Bernstein, MD, PhD; SriniVas Sadda, MD; Krzysztof Palczewski, PhD; Janet Sparrow, PhD; Artur Cideciyan, PhD; Hendrik Scholl, MD; Patricia Zilliox, PhD (not pictured)

Meeting presenters (left to right): Philip Rosenfeld, MD, PhD; Ilyas Washington, PhD; Peter Charbel Issa, MD, PhD; Elias Traboulsi, MD, MEd; Ulrich Schraermeyer, PhD; Carel Hoyng, PhD; Paul Bernstein, MD, PhD; SriniVas Sadda, MD; Krzysztof Palczewski, PhD; Janet Sparrow, PhD; Artur Cideciyan, PhD; Hendrik Scholl, MD; Patricia Zilliox, PhD (not pictured)

Stargardt disease is the world’s leading cause of inherited macular degeneration, affecting 30,000 people in the United States alone. It is also a challenging condition to understand and treat. While Stargardt disease often causes severe loss of central eyesight, its effect on vision and the retina can vary widely from patient to patient. The disease usually strikes in childhood or adolescence, but there are forms that cause significant vision loss much later in life. Also, a patient’s vision can remain stable for many years before a relatively sudden, steep decline occurs.

The Foundation Fighting Blindness Clinical Research Institute (FFB-CRI) convened 70 of the world’s top Stargardt disease research experts in Cleveland, Ohio, on February 17, 2017, to discuss these challenges and the current state of therapy development. Much of the information and data shared during the meeting came out of ProgSTAR, the FFB-CRI-funded natural history study of 365 Stargardt disease patients.
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Researchers Identify Canine Model of LCA (NPHP5) — Pursue Gene Therapy

Photo of William Beltran, Artur Cideciyan, Gustavo Aguirre and Samuel Jacobson. Photo by John Donges/Penn Vet

William Beltran, Artur Cideciyan, Gustavo Aguirre and Samuel Jacobson. Photo by John Donges/Penn Vet

When scientists embark on developing a treatment for an inherited retinal disease, one of their first tasks is to identify or create a model of the condition. Disease models can be cells in a Petri dish, a genetically engineered mouse or rat, or larger animal such as a pig. Each type of model has its pros and cons, including cost and similarity of disease characteristics to those in humans.

The investigators then use the model to study how vision is lost — that is, they figure out which types of retinal cells degenerate, what is causing the degeneration, and how quickly the cells stop working. After they gain an understanding of the disease, researchers evaluate potential therapeutic approaches using the model as a testing platform.

The goal: Move a therapy into a human study.
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