Benoît Arveiler is a Professor in Medical Genetics at Bordeaux University and the University Hospital of Bordeaux, Bordeaux, France. His entire career was dedicated to human molecular genetics studies in rare genetic diseases. Most of his focus over the last twenty 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 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. He has published > 30 articles on this disease. He is very much involved with patients’ associations. He co-organized several international conferences on albinism, including the European Days of Albinism (EDA 1 and 5) and the International Scientific Conference on Albinism ISCA 2025.