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Scientists Hauswirth, Aguirre and Beltran Recognized by FFB for Research Achievements

June 29, 2013 – Retinal research is not an easy career path. It’s a commitment to years of painstaking work — and overcoming inevitable failures and setbacks — before potentially achieving even a modest breakthrough. And once a promising treatment is discovered in the lab, scientists face formidable challenges in preparing it for a clinical trial. The process of translating a treatment for human study requires significant funding, clearing regulatory hurdles and managing the likelihood of additional technical issues and delays.

During the kick-off luncheon at its VISIONS 2013 conference in Baltimore, the Foundation Fighting Blindness recognized the outstanding accomplishments of three retinal scientists whose passion for science and making a difference in peoples’ lives trump the professional challenges.

The Llura Liggett Gund Award, given to “the best of the best” for career achievements in retinal research, was presented to William Hauswirth, Ph.D., of the University of Florida, for his leadership role in the development and advancement of gene therapy delivery systems, which are now used ubiquitously in lab and clinical studies for a variety of retinal degenerative conditions. Dr. Hauswirth began his gene therapy research in the early 1990s, when the first genes linked to retinal degenerations were being discovered.

The University of Pennsylvania’s Gus Aguirre, V.M.D., Ph.D., and William Beltran, V.M.D., Ph.D., received the Foundation’s Board of Directors Award, given annually for outstanding research progress leading to sight-saving treatments and cures. Drs. Aguirre and Beltran have identified and studied naturally occurring canine models of retinal conditions — including those for Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), Best disease and achromatopsia — which they are now using to evaluate therapies in preparation for clinical trials.

The Foundation-funded research of Drs. Hauswirth and Aguirre was critical to the launch of the first-ever gene therapy clinical trials for people with retinal diseases. In 2001, they were members of the team which showed that corrective gene therapy restored vision in Briard dogs — including the media sensation Lancelot — born blind from LCA caused by RPE65 mutations. The proof-of-concept in Briards opened the door to gene therapy clinical trials for humans.

The recipient of a Foundation career development award in 2004 and his Ph.D. in 2006, Dr. Beltran has been working under the mentorship of Dr. Aguirre with a focus on retinitis pigmentosa and retinal therapies. He was a lead investigator in a 2012 study of a gene therapy which preserved vision in a canine model of X-linked RP.

“These three scientists may not get the visibility of investigators on the front lines of clinical trials, but their contributions are just as important,” says Stephen Rose, Ph.D. chief research officer of the Foundation. “Without their achievements, we wouldn’t have human studies of vision-saving therapies.”

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