Stylianos E. Antonarakis is Professor and Chairman of Genetic Medicine at the University of Geneva Medical School, and director of the iGE3 institute of Genetics and Genomics of Geneva. He is a physician-scientist, human geneticist, who extensively studied the relationship between genomic variation and phenotypic variation. He was educated in the University of Athens (MD and DSc) and the Johns Hopkins University School of Medicine (Human Genetics).
His academic contributions at the Johns Hopkins and the University of of Geneva spans more than 30 years, and include the understanding of the molecular bases of monogenic disorders and complex genetic disorders including the beta-thalassemias, hemophilias, and trisomy 21, and the functional variability of the human genome. He has published extensively (more than 620 papers), is co-editor of the current edition of the classic textbook Genetics in Medicine, and he is listed as one of the highly cited scientists by the ISI institute (h-index 94).
He was the President of the European Society of Human Genetics, and was recently elected as the next President of HUGO. His current interests and research projects are the functional analysis of the genome, effect of human genetic variation to phenotypic variation, the molecular pathogenesis of trisomy 21 and polygenic phenotypes, the functional characterization of the conserved fraction of the genome, diagnostics and prevention of genetic disorders, and the societal implications of genetics and genome research.