McGill Univ research - CURE FOR BLINDNESS

Discussion in 'Health and medical' started by Dr. Jai Maharaj, Dec 16, 2003.

  1. Cure for Blindness

    ANI The Hindustan Times Thursday, October 9, 2003

    Washington, October 9 - By identifying two important gene mutations responsible for the most common
    inherited cause of blindness, retinitis pigmentosa, scientists at the Research Institute of the
    McGill University Health Centre (MUHC) feel they have come a step closer to treating it.

    They are the first to link two new gene mutations in two French-Canadian families to loss of vision
    in humans. Their findings are published in this month's issue of the American Journal of

    Approximately 1.5 million people worldwide are affected by retinitis pigmentosa, which at the moment
    has no cure. This disease causes vision loss by progressive degeneration and death of the cells that
    make up the retina, the portion of the eye that responds to light.

    "Retinitis pigmentosa is a devastating and complex disease," says principal investigator, Dr. Robert
    Koenekoop, director of pediatric ophthalmology at the Montreal Children's Hospital of the MUHC.
    "Many genes, gene mutations and symptoms are involved. The first steps to developing a treatment are
    the characterization of all these factors. Important progress has been made by identifying two
    important gene mutations present in the French-Canadian population."

    Koenekoop in collaboration with MUHC geneticist, Dr. Guy Rouleau, examined two very large French-
    Canadian families afflicted with retinitis pigmentosa for four generations. Ophthalmic evaluations
    and genetic analysis were used to characterize the gene mutations and the resulting phenotype.

    They demonstrated that these mutations resulted in variable, severe forms of the disease and in some
    cases other neurological disorders, such as hearing loss.

    "Our findings show that different gene mutations result in different symptoms of the disease," says
    Rouleau. "Our study will provide hope to those families who have suffered from this disease for
    generations and will lead to new screening and diagnostic tests.",00500004.htm

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