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 PhD 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. Dr. Kaufmann directs the Fragile X Syndrome Research Program and Clinic, as well as the Center for Genetic Disorders of Cognition & Behavior, which encompasses research activities on Down syndrome, Rett syndrome, Fragile X syndrome, and disorders of cholesterol metabolism linked to autism. At the international level, Dr. Kaufmann serves as the Chair of the Clinic Infrastructure Committee of the Fragile X Clinics Consortium of North America and as the Coordinator of RettSearch, the international consortium of Rett syndrome clinical researchers.

Dr. Kaufmann’s interdisciplinary work falls into three 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 neuroanatomical 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. Dr. Kaufmann is currently involved in research on Autism Spectrum Disorder in Down syndrome, Surveillance of Autism Spectrum Disorders, and discordant monozygotic twins as a model for genetic-environmental interaction in autism.

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."

Downs JA, Bebbington A, Jacoby P, Msall M, Mcllroy O, Fyfe S, Bahi-Buisson N, Kaufmann WE, Leonard H (2009) Mobility profile in Rett syndrome as determined by video analysis. Neuropediatrics: in press.

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. Ann Neurol: in press.

Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. (2009) Advances in the treatment of fragile X syndrome. Pediatrics Jan: 123: 378-90.

Kaufmann WE, Capone GT, Clarke M, Budimirovic DB (2008) Autism in genetic intellectual disability: insights into idiopathic autism. In Zimmerman AW (Ed). Autism: Current Theories and Evidence. Totowa, NJ: The Humana Press Inc., pp.81-108.

Coffee C, Ikeda M, Budimirovic DB, Hjelm LN, Kaufmann WE, Warren ST (2008) Mosaic FMR1 deletion causes Fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature. Am J Med Genet 146A:1358-1367.

Carter JC, Capone GT, Kaufmann WE (2007) Neuroanatomic correlates of autism and stereotypy in children with Down syndrome. NeuroReport 19:653-656

Walter E. Kaufmann, MD

Kennedy Krieger Institute
3901 Greenspring Ave.,
Baltimore, MD 21211
(map & directions)

Telephone: (443) 923-2789
Facsimile: (443) 923-7696
Email: kaufmann@kennedykrieger.org

Professor of Pathology, Neurology, Pediatrics, Psychiatry and Radiology
The Johns Hopkins University School of Medicine


Faculty | Clinical Programs | Research