CARE Research Project: Center for Genetic Disorders of Cognition and Behavior

Title of Research: Center for Genetic Disorders of Cognition and Behavior

Name of Investigator(s): Walter E. Kaufmann, MD

Dr. Walter Kaufmann is a research scientist at Kennedy Krieger Institute. He is an Associate Professor of Pathology, Neurology, Pediatrics, Psychiatry and Radiology at the Johns Hopkins University School of Medicine.

Brief Description of Summary Research, including Goals and Objectives:

The Center focuses on advancing research and clinical practice on genetic disorders associated with severe cognitive and behavioral impairment. The Center is characterized by integrating basic and clinical neuroscience through multidisciplinary research projects on genetic disorders traditionally grouped under the label of intellectual disabilities. Particular interests of the Center are the neurobiologic bases of intellectual disability, autism in intellectual disability, and social avoidance and other aberrant behaviors in these disorders. In the patient-based studies, neurologic, behavioral, molecular, and imaging data are integrated. At our location at the Clinical Research Center building of the Kennedy Krieger Institute, we offer “hands on” research opportunities in the following four projects:

1. Behavioral characterization of autism and stereotypic behavior in Down syndrome.
2. Gene function in fragile X and Down syndromes.
3. Relationship between genes and brain development of typically developing children and young adults.
4. Neuroimaging (brain regions structurally abnormal) correlates of autism in fragile X and Down syndromes.