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New cause of child blindness identified
Date:7/30/2012

This press release is available in French.

Montreal, July 29 2012 One of the mysteries of blindness has been solved. A team of international scientists in collaboration with the Research Institute of the McGill University Health Centre (RI MUHC) identified a new gene responsible for Leber Congenital Amaurosis (LCA), a devastating genetic form of blindness in newborns. What makes this discovery so exceptional is that this new gene called NMNAT1 known to be crucial for life has never been associated with any human disease. This is the first time such a major correlation has been established. The study was published today in the journal Nature Genetics.

"This is probably one of the most important discoveries in neuroscience and blindness in the past 15 years," said Dr. Robert Koenekoop, first author of the study, Director of the McGill Ocular Genetics Laboratory at the Montreal Children's Hospital of the MUHC and Associate Professor in Human Genetics and Ophthalmology in the Faculty of Medicine at McGill University. "Researchers have been looking for the link between NMNAT1 mutations and human disease in the brain or body for many years".

LCA is a rare, inherited eye disease that appears at birth or within the first few months of life, affecting about 1 in 80,000 newborns. Although there is no accepted treatment available for LCA, researchers have discovered 18 genes responsible for this particular form of blindness. To Dr. Koenekoop NMNAT1 is one of the most exciting genes of the 18 currently known genes to cause LCA because it opens up a whole new pathway of disease. "We can now identify the gene responsible for LCA in 75 per cent of children. We are getting closer to being able to identify all the genes for this form of child blindness and develop effective treatments," added the researcher

"Dr Koenekoop and his intern
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Contact: Julie Robert
julie.robert@muhc.mcgill.ca
514-934-1934 x71381
McGill University Health Centre
Source:Eurekalert

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