Christophe Beroud PharmD, PhD

Professor Christophe Béroud (PharmD, PhD) has 27 years' experience in research laboratories and is an expert in bioinformatics and molecular biology. He is the creator of the UMD system as well as multiple databases and software, including Human Splicing Finder (HSF) and UMD-Predictor, to process and analyse NGS data. He has published 130 international papers and has 5 patents. He is/was involved in multiple national and international committees and is/was the INSERM scientific team leader of various EU projects including RD-Connect.
He is full professor of Human Genetics in the Molecular Genetics Laboratory of the Aix Marseille University (AMU) and the APHM Hospital, head of the "Genetics and Bioinformatics" research team (INSERM UMR_S910), expert for the French Ministry of Research and Health and the European Commission, member of the Scientific committee of the Human Genome Variation Society (HGVS), member of the CSS2 at INSERM, communicating editor of the Human Mutation journal and member of the "Big data" committee at AMU.
He has contributed to oncogenetics with the development of international reference databases for TP53, BRCA1/2 and MMR genes; prenatal diagnosis of rare diseases with the development of the ISET technology to isolate and study circulating foetal cells; identification of disease-causing mutations in the NGS context with the creation of the most efficient in silico pathogenicity prediction systems; and to the diagnosis of rare disease (national expert centre for the diagnosis of congenital muscular dystrophies and dystonia