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 June 30, 2012 in the journal Nature Genetics.

This work was supported in great part by the Foundation Fighting Blindness (FFB) Canada and by Finding of Rare Disease Genes in Canada (FORGE Canada). It was also funded in part by the Government of Canada through Genome Canada, the Canadian Institutes of Health Research and the Ontario Genomics Institute. Additional funding was provided by Genome Quebec and Genome British Columbia.

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