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 U