Dr. Kaufmann received his undergraduate and medical education at the University of Chile’s combined College/Medical School Program, where he also completed the greater part of a Ph.D. program in Neurobiology and Behavioral Sciences. After an internship and residency at hospitals in Santiago, he came to Boston for a Research Fellowship at Beth Israel’s Dyslexia Neuroanatomical Laboratory. At Children’s Hospital in Boston, Dr. Kaufmann served a residency in Anatomic Pathology and also worked as an Assistant in the Developmental Disabilities Clinic. Following this, Dr. Kaufmann came to Baltimore to hold a residency and fellowship in Anatomic Pathology and Neuropathology at the Johns Hopkins University School of Medicine. After completing his training in Pathology, Dr. Kaufmann joined the faculty of the Department of Neurology, spending four years working with Dr. Paul Worley and others in the Department of Neuroscience on genes involved in cortical and hippocampal developmental plasticity using molecular and neuroanatomical techniques. In the following years, in connection with his affiliation with Kennedy Krieger Institute, his research has evolved into integrating molecular, neurobiological, neuroimaging, and clinical aspects of the most common genetic disorders associated with intellectual disability and autism spectrum disorders (ASD). Dr. Kaufmann directs the Fragile X Syndrome Clinic, as well as the Center for Genetic Disorders of Cognition & Behavior, which encompasses research activities on Down syndrome, Rett syndrome, Fragile X syndrome, ASD in metabolic disorders, and ASD in the general population. Dr. Kaufmann is currently a member of the Psychiatric/General Medical Interface Study Group and the Neurodevelopmental Disorders Work Group for the Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-V). He also serves as a member of the Scientific Review Board and the Medical Advisory Board for the International Rett Syndrome Foundation (IRSF), and as the Coordinator of RettSearch, the international consortium of Rett syndrome clinical researchers. Additionally, he serves as a member of several committees and boards in the Fragile X syndrome field: the Steering and Membership and Infrastructure (Chair) Committees of the Fragile X Clinic and Research Consortium of North America (FXCRC), the Scientific and Clinical Advisory Committee of the National Fragile X Foundation (NFXF), and the NIH-sponsored committee on Outcome Measures for clinical trials in Fragile X syndrome.

Dr. Kaufmann’s interdisciplinary work falls into four main categories. First, as a behaviorally oriented neurologist, he is interested in characterizing neurobehavioral aspects of the phenotypes of Rett syndrome, Down syndrome, and Fragile X syndrome. Of particular interest to him and other members of the Center are the delineation of autism and other disorders of social interaction in these genetic syndromes. This research involves both the use of standardized behavioral tests as well as experimental paradigms. A second component deals with the neural circuit substrate of the behavioral phenotypes, for which he uses mouse and other experimental models and neuroimaging data from affected subjects. The third category consists of studies of genes and proteins involved in the pathogenesis of the abovementioned genetic syndromes, in partnership with Dr. Joseph Bressler. Emphasis of this work is on identifying molecular profiles associated with specific neurobehavioral features, in brain and peripheral samples, and on blood sample-based biomarkers of phenotypical variation and severity. Due to the association between mutations in the gene coding for the methylated DNA-binding protein MeCP2 and Rett syndrome, Dr. Kaufmann has become interested in the role of epigenetic mechanisms in developmental disorders and recently joined The Epigenetics Center at Johns Hopkins. A fourth area of research, which integrates methodologies applied to the abovementioned genetic disorders, examines genetic and epigenetic contributions to ASD in the general population and diagnostic issues in these disorders. Dr. Kaufmann feels that his background in multiple fields, including pathology, neurology, pediatrics, behavioral sciences and neuroimaging, helps him to look at conditions such as Fragile X in a comprehensive way. This interdisciplinary perspective helps Dr. Kaufmann to “put the pieces of the puzzle together.” Dr. Kaufmann’s research funded by the National Institute of Health, Autism Speaks, the Department of Defense, the FRAXA Research Foundation, and the Center for Disease Control.

Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H (2009) "Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database." Movement Disorders: in press.

Roberts JE, Clarke ME, Alcorn K, Carter JC, Long ACJ, Kaufmann WE (2009) "Autistic behavior in boys with Fragile X syndrome: social approach and HPA-axis dysfunction." Journal of Neurodevelopmental Disorders August 19.

Carter JC, Lanham DC, Cutting LE, Clements-Stephens AM, Chen X, Hadzipasic M, Kim J, Kaufmann WE (2009) "A dual DTI approach to analyzing white matter in children with dyslexia." Psychiatry Research (Neuroimaging) 172:215-219.

Hernandez RN, Feinberg RL, Vaurio R, Passanante NM, Thompson RE, Kaufmann WE (2009) "Autism spectrum disorder in Fragile X syndrome: a longitudinal evaluation." American Journal of Medical Genetics 149A:1125-1137.

Rosenberg RE, Daniels AM, Law JK, Law PA, Kaufmann WE (2009) "Trends in autism spectrum disorder diagnoses: 1994-2007." Journal of Autism and Developmental Disorders 39:1099-1111.

Horská A, Farage, L, Bibat G, Nagae LM, Kaufmann WE, Barker PB, Naidu S (2009) "Brain metabolism in Rett Syndrome: age, clinical, and genotype correlations." Annals of Neurology 65:90-97.