Bordeaux University and University Hospital of Bordeaux
Benoît Arveiler is currently a Professor in Medical Genetics at Bordeaux University and University Hospital of Bordeaux, France. He works in the field of molecular genetics of rare diseases. Most of his focus over the last fifteen years was on albinism. During this time, he gradually established the thorough analysis of the albinism genes for diagnostic purposes. This includes the systematic search for point mutations and gene rearrangements in the 21 genes implicated in ocular, oculocutaneous and syndromic forms of albinism. His group recently identified two new albinism genes, DCT (OCA8) and BLOC1S5 (HPS11). His current work focuses on i) the search for new albinism genes, ii) a search for regulatory and intronic variants in the albinism genes, and iii) investigating genotype-phenotype correlations. He is also involved in i) functional studies of variants of unknown significance and ii) investigating cellular and animal models to better understand the link between defective melanogenesis and abnormal retinal development.
He co-organized the 1st and 5th European Days of Albinism in 2012 and 2020 respectively, and has been a member of the scientific committees of second, third and fourth EDAs.. He was co-chair of Albinism Europe’s Scientific Committee.