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Dr. Walter Kaufmann is a research scientist at Kennedy Krieger Institute. He is also an Associate Professor of Pathology, Neurology, Pediatrics, Psychiatry and Radiology at the Johns Hopkins University School of Medicine.
Biographical Sketch:
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 with children with Down’s Syndrome as an Assistant in the Developmental Disabilities Clinic. After a clinical fellowship in Neuropathology at Children’s, Dr. Kaufmann came to Baltimore to hold a residency and research fellowship in Anatomic Pathology and Neuropathology at Johns Hopkins. Dr. Kaufmann is the Anatomy Affiliate and Co-Principal Investigator, Neuronal Tracking and DTI at the F.M. Kirby Research Center for Functional Brain Imaging at the Kennedy Krieger Institute. He also directs the Fragile X Syndrome Research Program at KKI.
Research Summary:
Fragile X syndrome is a hereditary condition caused by the absence of a specific protein, FMRP (Fragile X Mental Retardation Protein). It is the most common cause of genetically-inherited cognitive impairment. In addition to cognitive impairment, Fragile X syndrome is associated with a number of physical and behavioral characteristics, including large ears, macroorchidism, attentional difficulties, hyperactivity, language and speech difficulties, and autistic-like features.
While there is no cure for Fragile X syndrome, there are many areas of intervention that can improve the lives of those affected and their families. All persons with Fragile X can make progress given the proper education, therapy, and support. Speech and language, behavior, cognitive development, sensory integration, gross motor development, and daily living are areas that often need to be addressed for someone with Fragile X syndrome. While many of these areas require physical and behavioral intervention, medication is often an important component of the treatment.
Dr. Kaufmann’s interdisciplinary work falls into three main categories. First, he works as a neurologist and the pediatric neuropathologist for the Johns Hopkins Hospital. In terms of research, he explores the ways in which a genetic abnormality leads to a neurologic and behavioral phenotype in three genetic disorders associated with mental retardation: Rett syndrome, Down syndrome, and Fragile X syndrome. This research program uses a combination of molecular, anatomical, neuroimaging, and behavioral approaches. Dr. Kaufmann also directs KKI’s Fragile X Research Program, which studies patients with Fragile X Syndrome from a multidisciplinary perspective. By developing and implementing new protocols, as a member of the Neuroimaging Core of the Mental Retardation and Developmental Disabilities Research Center, Dr. Kaufmann assists researchers who are using neuroimage analysis to study a wide range of developmental 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."
Recent Publications/Presentations:
P. Kankirawatana, H. Leonard, C. Ellaway, J. Scurlock, A. Mansour, C. M. Makris, L. S. Dure, IV, M. Friez, J. Lane, C. Kiraly-Borri, V. Fabian, M. Davis, J. Jackson, J. Christodoulou, W. E. Kaufmann, D. Ravine, and A. K. Percy Early progressive encephalopathy in boys and MECP2 mutations, Neurology, Jul 2006; 67: 164 - 166.
Sun H-T, Cohen S, Kaufmann WE (2001) Annexin 1 is abnormally expressed in Fragile X syndrome: a two-dimensional electrophoresis study in lymphocytes. Am J Med Genet 103: 81-90.
Stieltjes B, Kaufmann WE, van Zijl PCM, Fredericksen K, Pearlson GD, Mori S (2001) Diffusion tensor imaging and axonal tracking in the human brainstem. NeuroImage 14: 723-735.
Kates WR, Folley BS, Lanham DC, Capone GT, Kaufmann WE (2002) Cerebral growth in Fragile X syndrome: review and comparison with Down syndrome. Microsc Res Tech 57: 159-167.
Wang PY, Kaufmann WE, Koth CW, Denckla MB, Barker PB (2000). Thalamic involvement in neurofibromatosis type 1: evaluation with proton magnetic resonance spectroscopic imaging. Ann Neurol 47: 477-484.
Kaufmann WE, MacDonald SM, Altamura C (2000). Dendritic cytoskeletal protein expression in mental retardation: an immunohistochemical study of the neocortex in Rett Syndrome. Cereb Cortex 10: 992-1004.
Eberhart CG, Kaufmann WE, Tihan T, Burger PC (2001). Apoptosis, neuronal maturation, and neurotrophin expression within medulloblastoma nodules. J Neuropathol Exp Neurol 60: 60-67. George T. Capone, M.D. |
