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2016  Braille Award for Research on Blindness

Jim Smith/ElHispano

Philadelphia-  Lobbyists, activists and celebrities alike have long cajoled and coaxed lawmakers on Capitol Hill over their favored causes.  But few had the bark of a shaggy haired dog named Lancelot.

  Born in 2000 with the disorder known as Leber’s Hereditary Optic Neuropathy – an inherited disease that causes blindness- a gene therapy remedy developed by University of Pennsylvania Professor Gustavo Aguirre sent Lancelot bounding up the steps of the Capitol.

    Dr. Gustavo Aguirre’s gene replacement treatment took only three months to turn Lancelot from an awkward and cowering canine into what Chief Scientist Gerald Charde described as a “nice and happy mut.”

   On Friday, 29th of Jan., the Associated Services for the Blind and Visually Impaired – based in Philadelphia- recognized Dr. Gustavo D. Aguirre with the 2016 Louis Braille Award for innovative research and treatments that led to cures for Liber’s disease and other ailments. Dr. Gustavo’s work not only brought sight to Lancelot, but made him a strong advocate for funding medical research.

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    “The goal of my work is to treat and hopefully cure blindness through gene therapies and other strategies,” Aguirre said. “I am truly honored by this recognition from an organization that shares my commitment to improving the lives of people with vision disorders.”

   A professor of medical genetics and ophthalmology at the University of Penn, Dr. Aguirre has investigated the genetic basis of a numerous inherited vision disorders, including Achromatopsia, Retinitis Pigmentosa (RP), Leber’s congenital amaurosis (LCA) and Best disease.

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     By using gene therapy as the principal avenue for treatment of several inherited disorders, Dr. Aguirre was able to place a functional copy of a gene that is lacking, restoring vision in animals with RP and LCA. The Leber’s congenital amaurosis therapy is currently being applied in human clinical trials.

  As part of an immigrant family that left Cuba in September of 1959, Dr. Aguirre told El Hispano that his family came to the United States largely for its educational advantages. If they had “waited longer,” explained the Penn researcher, his family’s “exit would have been more difficult, and truly would have represented exile.”

    From his earliest work as an Ophthalmologist, Dr. Aguirre told El Hispano he “quickly learned that many of the diseases in purebred animals (were) inherited. This led to a focus on genetic eye diseases, especially those that cause blindness.”

     Discussing the potential for his gene therapy research on the treatment of LCA to aid humans with similar ailments, Dr. Aguirre said that several years after his work’s successful use on Lancelot, “clinical trials were started at three institutions – Philadelphia’s Scheie Eye Institute,  CHOP and Institute of Ophthalmology in London.” And all three trials showed “efficacy and safety.”

    “Many genetic disease in dogs resemble human diseases and probably share the same genes,” explained Kr. E. Kirkness in an interview with ABC news.  

   Dogs share some 75 percent of the genes identified in humans.  As a consequence of this genetic kinship, genetic research and the resulting treatment of dogs is accelerating the treatment of inherited conditions in humans.

    Dr. Aguirre is also credited with discovering a cure night blindness in dogs, a condition linked to Progressive Retinal Atrophy. The research undertaken in the pursuit of a cure for night blindness, also led to mapping out the canine genome by 2004.

    “Veterinary medicine is a wonderful profession,” Dr. Aguirre said. “Its research allows you to find causes of disease, and prevention of disease (that) are important to animals and humans.”

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