David H. Gutmann, MD, PhD
Dr. Gutmann is the Donald O. Schnuck Family Professor of Neurology and Director of the Washington University Neurofibromatosis (NF) Center
The focus of our research is to define the genomic, cellular, and molecular mechanisms that underlie nervous system dysfunction, particularly as they relate to cancer and cognitive/behavioral abnormalities. Our studies have employed neurofibromatosis type 1 (NF1), a common neurogenetic condition, as an experimental platform to understand the numerous factors that contribute to neurological disease heterogeneity.
Laboratory Research. Children and adults with NF1 are prone to the development of nervous system tumors (brain and nerve tumors) as well as attention deficits, learning problems, and autism. To this end, we have employed NF1-patient induced pluripotent stem cells (iPSCs) and novel genetically-engineered mouse strains to define the molecular and cellular pathogenesis of pediatric low-grade brain tumors, adult high-grade brain tumors, adult malignant peripheral nerve sheath tumors, learning and memory disabilities, attention deficit, and autism. Current studies are focused on (1) understanding how stem cells initiate and maintain brain tumors, (2) identifying more effective therapies for treating sporadic and NF1-associated pediatric low-grade gliomas, (3) determining how defects in NF1 gene function lead to learning/memory defects and autism, (4) understanding how immune system cells (microglia) control brain tumor formation and growth, (5) defining the genetic and genomic basis for clinical heterogeneity (sexual dimorphic optic glioma-induced vision loss and the differential impact of the germline NF1 gene mutation), and (6) identifying biomarkers of disease activity amenable to clinical translation.
Clinical/Translational Research. In addition to basic laboratory research, our team has established numerous resources to enable clinical and translational research. These include tools for epidemiological studies (NF1 Patient Registry Initiative in collaboration with Dr. Kimberly Johnson, Brown School of Social Work), genomics research (clinically-annotated DNA repository), and clinical investigation (NF1 Patient Clinical Database). In addition, we have embedded clinical research into the Washington University NF Center Clinical Program housed at St. Louis Children’s Hospital.
Dr. Gutmann graduated from Oak Park High School (1977) to attend the University of Michigan. During his tenure in Ann Arbor, he received his undergraduate degree in Comparative Physiology (1979), M.S. in Human Genetics (1980), Ph.D. in Microbiology and Immunology (1984), and M.D. (1986). He then completed his residency training in Neurology at The University of Pennsylvania (1990), where he founded a neurogenetics clinic with Dr. Kenneth Fischbeck. Based on his interest in the genetic basis for neurological disease, he obtained postdoctoral fellowship training in Molecular Medicine and Genetics in the laboratory of Dr. Francis S. Collins (1993). As a member of the team that identified the full-lengthNF1gene, Dr. Gutmann identified theNF1protein, neurofibromin, and characterized the function of neurofibromin as a negative regulator of the RAS proto-oncogene.
In late 1993, he was recruited to Washington University as an Assistant Professor (1993-1998), and established the Neurofibromatosis Clinical Program in early 1994. He became an Associate Professor in 1998 and the Donald O. Schnuck Family Professor in 2001. In 2004, Dr. Gutmann founded the Washington University NF Center to galvanize research on Neurofibromatosis and related disorders. Past honors include the American Academy of Neurology Decade of the Brain Lectureship (1996), Washington University Clinical Teacher of the Year Award (2003), election to the American Society for Clinical Investigation (2003), Award for Excellence in Pediatric Basic/Translational Research (2007), Children’s Tumor Foundation Frederich von Recklinghausen Award (2012), Washington University Distinguished Faculty Research Award (2013), and Riley-Church Professorship (2014). Dr. Gutmann is a founding member of the Society of Neuro-Oncology.
Dr. Gutmann has published over 370 peer-reviewed publications and over 80 invited reviews and book chapters. For a list of Dr. Gutmann's publications, please visit the Gutmann Laboratory website.
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