Dr. Walter Kaufmann is currently the Chief Scientific Officer for Anavex Life Sciences Corp. and an Adjunct Professor of Human Genetics at Emory University. He has over 25 years of clinical research experience in neurodevelopmental disorders, with emphasis on Rett syndrome and fragile X syndrome, during a career that has included full professorship at the medical schools of Johns Hopkins University and Harvard University. He has committed himself to laboratory investigations of molecular pathways, neuroimaging, animal models of disease, and clinical trials of targeted, disease-modifying therapies. His work helped to define Rett syndrome as a disorder of synaptogenesis, leading to a better understanding of its underlying mechanisms. He has conducted research on outcome measures and biomarkers in Down syndrome, Rett syndrome, and fragile X syndrome.
Dr. Kaufmann has also held several leadership positions, including advisor and reviewer to CDKL5, FOXG1, Rett syndrome, and fragile X syndrome advocacy groups. He is a member of the Scientific and Clinical Advisory Committee of the National Fragile X Foundation. Other positions he has held include Chair of the International Consortium on Rett Syndrome Clinical Researchers (RettSearch) and member of DSM-5’s Neurodevelopmental Disorders Work Group, which developed the current diagnostic guidelines for intellectual disability and autism spectrum disorder. He has also served as member and chair of NIH and DoD (CDMRP) study sections reviewing grants on neurodevelopmental and other neurological disorders. He is also the Editor of the first book on clinical aspects of Rett syndrome (Mac Keith Press), section Editor for Pediatric Neurology for Current Neurology and Neuroscience Reports, and a member of the editorial board of the journals Brain Sciences and Frontiers (Epigenomics & Epigenetics).