Quebec Family Key To Discovery of Blindness Disease Gene

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Retinitis Pigmentosa

Researchers at the MUHC have discovered a new gene for retinitis pigmentosa (RP), a group of inherited diseases that result in degeneration of the eye's retina. Patients suffer gradual vision loss, often described as like seeing the world through a rolled-up newspaper, which results in complete blindness in as little as six months.

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The new discovery, published in the journal Human Genetics this month, was achieved thanks to the involvement of a family in Quebec, where genetic diseases are often more prevalent than in other parts of the world. This discovery provides a greater understanding of retinitis pigmentosa, facilitating prenatal, preclinical and carrier testing and advancing the development of treatments and cures for the 1.5 million sufferers of this disease worldwide.

"This study is a perfect example of how clinical practice and basic research combine to facilitate discovery and improve health care

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