January 24, 2016
Contributed Art /University of Pennsylvania
Gustavo D. Aguirre, professor of medical genetics and ophthalmology at Penn’s School of Veterinary Medicine.
A professor of medical genetics and ophthalmology at the University of Pennsylvania's School of Veterinary Medicine will be honored with 2016 Louis Braille Award for innovative research and treatment of inherited blinding diseases.
Gustavo D. Aguirre will be recognized by the Associated Services of the Blind and Visually Impaired on Friday, January 29 at the 56th Annual Louis Braille Awards Ceremony in Philadelphia, according to Penn News.
Aguirre's work has examined the molecular bases of inherited blindness by identifying the genetic causes and mechanisms that link mutation to disease. Specifically, he has led dog model studies that evaluate inherited photoreceptor diseases through a "disease hunting" approach that analyzes mutations found in on genome-wide scans. The goal of his research is to develop gene-based therapies that can restore function and prevent degeneration of mutant photoreceptor cells.
“The goal of my work is to treat and hopefully cure blindness through gene therapies and other strategies,” said Aguirre, who earned his V.M.D. and Ph.D. from the University of Pennsylvania. “I am truly honored by this recognition from an organization that shares my commitment to improving the lives of people with vision disorders.”
Aguirre has investigated inherited vision disorders such as Leber's congenital amaurosis, Best disease, achromatopsia, and retinitis pigmentosa. His gene therapy approach, successfully tested in animal models, provides the eye a functional copy of a missing gene that enables restored vision in X-linked retinitis pigmentosa and Leber’s congenital amaurosis. His gene therapy model for the latter condition is now in human clinical trials.
Aguirre is a member of the National Academy of Medicine and a Fellow of the Association for Research in Vision and Ophthalmology and the College of Physicians of Philadelphia.
