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Collaborative Research Area on Brain Malformation Disorders

Coordinator: Daniel A. Doherty, M.D., Ph.D.

The Brain Malformation Disorders Collaborative Research Area brings together a broad range of affiliates to study all aspects of early brain development that result in brain malformations. Members of this CRA study early forebrain developmental disorders such as agenesis of the corpus callosum, mid-hindbrain disorders such as rhombencephalosynapsis, Dandy-Walker malformation and Joubert syndrome, disorders of brain size including microcephaly and megalencephaly, and cortical malformations such as lissencephaly and polymicrogyria. A major focus of this CRA is to identify single gene defects that cause these disorders. Immediate benefits include diagnostic and carrier testing, focused evaluation for associated medical complications, more precise recurrence risk counseling and improved prognostic information. Genetic causes also provide an entry point to define the biological mechanisms involved.

Key Faculty Investigators

• Daniel Doherty, M.D., Ph.D., Professor, Pediatrics, Coordinator
• Kimberly Aldinger, Ph.D., Assistant Professor, Pediatrics and Genetic Medicine
• Jeffrey Chamberlain, Ph.D., Professor, Neurology
• Michael Cunningham, M.D., Ph.D., Professor, Pediatrics
• Ione Fine, Ph.D., Professor of Psychology; Affiliate Professor of Radiology and Ophthalmology
• Ian Glass, MBChB, M.D., FACMG, Professor, Pediatrics
• Marshall S. Horwitz, M.D., Ph.D., Professor of Laboratory Medicine & Pathology
• Kate MacDuffie, Ph.D., Assistant Professor, Pediatrics
• Kathleen Millen, Ph.D., Associate Professor, Pediatrics
• Cecilia Moens, Ph.D., Affiliate Professor, Biology and Biological Structure
• Jaime Olavarria, M.D., Ph.D. Associate Professor, Psychology
• James Phillips, Ph.D., Research Professor, Otolaryngology/Head and Neck Surgery
• Jan (Nino) Ramirez, Ph.D., Professor, Neurological Surgery and Pediatrics
• Wendy Raskind, M.D., Ph.D., Professor, Medicine
• Dennis Shaw, M.D., Professor, Radiology
• Eric Turner, M.D., Ph.D., Professor, Psychiatry & Behavioral Sciences