Exome Aggregation Consortium News Today

Department of Neurology, The First Affiliated Hospital of Anhui Medical University, Hefei, China The pathogenesis of Alzheimers disease is complex, and early-onset Alzheimers disease (EOAD) is mostly influenced by genetic factors. Presenilin-1, presenilin-2 (PSEN2), and amyloid precursor protein are currently known as the three main causative genes for autosomal dominant EOAD, with the PSEN2 mutation being the rarest. In this study, we reported a 56-year-old Chinese Han proband who presented wi...

February 2, 2021 By Deborah Borfitz February 2, 2021 | The Human Heredity and Health in Africa (H3Africa) Consortium is endeavoring to foster collaborative research on the world’s second-most populous continent, having spent the past decade bolstering the genomics research capacity here with 48 projects across 34 countries. Clinical geneticist and physician-scientist Neil Hanchard, M.D., Ph.D., through his academic position at Baylor College of Medicine, has, for example, been in...