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Aurora magazine

300 blind mice reveal the causes of hereditary blindness

A study conducted on 300 blind mice has allowed us to identify new genes related to hereditary blindness. In fact, the guinea pigs have in common hundreds of unknown genes, which seem to be linked to the development of sight. Further studies could unravel the genetic causes of some eye diseases, allowing new treatments to be developed. Or at least what Dr. Bret Moore, of UC Davis Veterinary Medical Teaching Hospital, and Professor Ala Moshiri of the University of California are hoping for.

The study conducted by the Moshiri and Moore team is part of the UC Davis' Mouse Biology Program, which is part of the International Mouse Phenotyping Consortium. The consortium aims to identify a function for each gene in the mouse genome, so as to facilitate the research of human diseases. Researchers have found genes related to all functions of the body, from breathing to the smell of the breath. To date, the consortium has identified over 4,300 functions related to 11 organs.

The data collected by this particular study is proving invaluable to the entire ophthalmic community. The researchers combined the consortium data with those of genes related to visual defects. They identified 347 genes, of which 86 were already known and 261 were still unknown. This could help identify the still many unknown causes of blindness.

At present, the cause of hereditary blindness is only identifiable in 50-75% of cases. In all others, researchers have no idea what genetic variants to look for. Given the discovery made, the researchers would like to analyze the genome of some patients left without a diagnosis. The cause of their blindness could be in one of the identified genes.