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Gene Responsible for Blindness in Infants and Children Identified

Montreal, June 4, 2007 An international team led by MUHC has identified the gene that causes Leber Congenital Amaurosis (LCA). LCA is a common congenital blindness in infants and small children. The study has been published in todays issue of Nature Genetics and is partly funded by the Foundation Fighting Blindness in Canada (FFB-C).

This discovery has the potential to fast-track a cure for this disease, says lead investigator Dr. Robert Koenekoop, director of the McGill Ocular Genetics Centre at the MUHC. Our main research goal is to identify all the genes responsible for congenital blindness in children and then study them so that we can then use gene therapy to rescue their vision.

Working with an international team of researchers including Drs. Anneke den Hollander, Frans Cremers and Ronald Roepman from the University of Nijmegen in The Netherlands, and Dr. Chris Inglehearn from The University of Leeds in the UK, Dr. Koenekoop and his team, including Dr. Irma Lopez, used a new technique called SNP (single nucleotide polymorphism) technology to identify homozygous regions in the genome, which led to the discovery of the new gene called LCA5.

In the past, large families were necessary to find genes, but in this study only samples from one Quebec and one American patient were used to accomplish this. The SNP micro array technology accelerated the process of locating the gene and enabled the investigators to isolate it within a few months instead of several years. This method may become a model for identifying other retinal diseases and causes of blindness in the future, says Dr. Koenekoop, who is also associate professor in Ophthalmology and Human Genetics at McGill University.

The same international research team identified the CEP290 gene last year, the most common genetic cause of LCA (American Journal of Human Genetics September, 2006). By using the protein structure of CEP290, the investigators were abl
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