Benoît Arveiler

Benoit Arveiler is a molecular biologist who has been involved in the genetics of albinism over the last 20 years. His laboratory runs a cohort of more than 2000 patients, aiming to improve diagnosis, study phenotype-genotype correlations and identify pathogenic non exonic variants. They recently identified the genes responsible for OCA8 and HPS11, and identified a complex haplotype comprising coding and non-coding variants in the TYR gene.