Walter Kaufmann

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 with Rett syndrome and fragile X syndrome (FXS), 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 the 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 was Co-Principal Investigator of the NIH-funded Rett Syndrome Natural History Study (RNHS) and served on its training committee. He has been a member of the Steering Committee of the CDC-funded Natural History Study of fragile X syndrome (FXS) since its beginning in 2008. He has served as medical monitor for the NeuroNEXT clinical trials network of NINDS and has been a consultant for key industry partners on the design and analysis of clinical trials. He has conducted research on outcome measures and biomarkers in Down syndrome, Rett syndrome, and fragile X syndrome. This includes partnerships with investigators at the Massachusetts Institute of Technology (MIT) and Trinity College Dublin on breathing parameters and molecular biomarkers, and his leading role for the RSBQ Working Group (an international collaboration). His clinical trial experience spans 15 drug trials in neurodevelopmental disorders, including FXS and Rett syndrome, serving as Investigator-Sponsor and site Principal Investigator and Sub-Investigator for both Phase I to Phase 3 trials. Dr. Kaufmann has also held many 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 FXS and other neurodevelopmental 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).