FFB Individual Investigator Grant for Rob Collin

Collin, Rob

Dr. Rob Collin (department of Human Genetics) has received a prestigious research grant ($ 300.000) from the Foundation Fighting Blindness. He will use this grant to continue his research on the development of genetic therapy for inherited blindness in the coming three years. 

Leber congenital amaurosis (LCA) is the most severe form of inherited blindness. Individuals with LCA have reduced vision already from the first year of life, and become legally blind at a very young age. The most frequent LCA-causing mutation is an intronic change inCEP290that results in aberrant splicing of theCEP290mRNA. In a recently published study, dr. Collin has shown that in cultured cells derived from LCA patients with the intronicCEP290mutation, the splice defect can be rescued by the addition of antisense oligonucleotides (AONs), small RNA molecules with a specific sequence complementary to the target mRNA molecule.        

With the FFB grant, dr. Collin will further determine the therapeutic potential of AONs for the treatment ofCEP290-associated LCA, by using cultured cells derived from patients as well as a tailor-made mouse model. The results of these studies will hopefully allow the initiation of clinical trials to treat this blinding disease

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