Bordeaux University and University Hospital of Bordeaux
Bordeaux, France
Benoît Arveiler, PharmD, PhD 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 has been 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 identified two albinism genes, DCT (OCA8) and BLOC1S5 (HPS11). His current work focuses mainly on i) identifying regulatory elements of the albinism genes and pathogenic variants thereof, ii) characterizing variants that affect RNA splicing, and iii) investigating genotype-phenotype correlations. He is also involved in functional studies of variants of unknown significance and investigating cellular and animal models to better understand the link between defective melanogenesis and abnormal retinal development.
For over ten years, Benoît Arveiler has been the President of the Scientific Committee of the French albinism association, Genespoir. He co-organized the 1st and 5th European Days of Albinism Conferences in 2012 and 2020 respectively, and has been a member of the scientific committees of the 2nd, 3rd and 4th EDAs, as well as of ISCA 2022. He was co-chair of the Scientific Committee of Albinism Europe.