Karen F. Berman, M.D.
Biographical Information
Karen F. Berman, M.D., is chief of the Section on Integrative Neuroimaging in the Clinical Brain
Disorders Branch and the Genes, Cognition, and Psychosis Program at the National Institutes of Health,
NIMH Intramural Research Program. After receiving her M.D. degree at St. Louis University, she completed a medical internship at Washington University in St. Louis, residency training in psychiatry at the
University of California at San Diego, and residency training in nuclear medicine at the NIH Warren G.
Magnusen Clinical Center. Dr. Berman is board certified in both psychiatry and nuclear medicine. Dr.
Berman’s research group conducts translational investigations, using multimodal neuroimaging to bridge the gap between neurogenetic, molecular, cellular, and system-level mechanisms of brain dysfunction and the cognitive and behavioral manifestations of neurosychiatric disorders with neurodevelopmental and genetic sources such as schizophrenia and Williams syndrome, as well of other conditions impacting cognition such as normal aging. They also study the effects of gonadal steroid hormones on brain function. Dr. Berman has received the A.E. Bennett Award for Neuropsychiatric Research of the Society of Biological Psychiatry, the
National Alliance for Research on Schizophrenia and Depression (NARSAD) Independent Investigator
Award, and the NIH Bench to Bedside Award. In 2005, she received the NIH Director’s Award for her outstanding pioneering research on Williams Syndrome.
Presentation Abstracts
Translating Between Genes, Brain, and Behavior with Neuroimaging: Neural Mechanisms in Schizophrenia and Williams Syndrome (4 pm)
Brain dysfunction occurs at multiple levels of neural dysfunction, the most basic of which is gene expression, which works through cell and system-level manifestations to confer individual cognitive and behavioral features and aberrant phenomena that comprise neuropsychiatric disease. Neuroimaging can access each of these levels of neural function and elucidate the relationships among them. We have used this approach in two disease models: schizophrenia and Williams syndrome. In schizophrenia and other neuropsychiatric disorders where the causative genetic underpinnings are not known, the search for genetic mechanisms in the brain begins with clinical observations. Based on these observations, and key pathophysiological hallmarks of schizophrenia, such as frontal lobe dysfunction and dopamine dysregulation, we have examined the role of allelic variation in a gene with special relevance to dopamine trafficking in frontal lobe, catechol-O-methyl transferase ( COMT ). Evidence that the val/met polymorphism affects the direction of the relationship between subcortical dopamine stores and prefrontal function suggests a mechanism by which this polymorphism can confer susceptibility to schizophrenia. In Williams syndrome where the affected genes are known, neuroimaging can be used to investigate how those gene effects are transduced in the brain to produce the cognitive and behavior features of the syndrome. With multimodal imaging, we have identified three fundamental aspects of the brain phenotype in adults with Williams syndrome. Two of these appear to contribute to this syndrome’s cognitive hallmark – visuospatial construction impairment, while the third appears to contribute to the syndrome’s hallmark social cognition features. Identification of these brain phenotypes provides an avenue for linking specific genes to the neural, and thus, to the behavioral features of the syndrome. This model extends and complements efforts to understand genetic mechanisms of behavior, and its pathologies, in the general population, where contributions of individual genes are small and phenotypes may be subtle and complex.
How Genes Work in the Brain: Lessons from Neuroimaging of Schizophrenia and Williams Syndrome (6 pm)
Within the past decade, the study of biology has entered what is arguably the most significant period of advance in history: a period of understanding the human genome and individual genetic architecture. New insights at the level of genetic variation and gene expression offer unprecedented opportunities to learn how the human brain is constructed to confer the unique characteristics that make us who we are. To fully elucidate this process, we need to understand brain function and dysfunction at the various levels it occurs, from the most basic element, gene expression, to our most complex behaviors. We have used a spectrum of neuroimaging techniques to elucidate the relationship among these levels of neural function in two disease models: schizophrenia and William syndrome. Findings from these studies will be presented.