Dr. Dobyns is Professor of Pediatrics and Director of the Division of Genetics and Metabolism at the University of Minnesota. He joined the Faculty in June 2020 for his second tour at the U, having worked in the Division of Pediatric Neurology from 1992-1998. He is a physician-scientist who studies the nature and causes of developmental brain disorders, and is a leading authority on the causes of human brain malformations. While best known for his work on lissencephaly (smooth brain) and megalencephaly (enlarged brain), he provided the original descriptions for more than 10 clinically recognizable and now well-known syndromes including Smith-Magenis syndrome, rapid-onset dystonia-parkinsonism, coloboma-renal syndrome, bilateral frontoparietal cobblestone malformation, megalencephaly-capillary malformation syndrome (MCAP), megalencephaly-polymicrogyria-polydactly-hydrocephalus syndrome (MPPH) and X-linked lissencephaly with abnormal genitalia (XLAG), all of these now linked to the underlying gene or genes. He co-discovered at least 14 pathogenic copy number variants including the well-known deletion 17p13.3 (Miller-Dieker syndrome), deletion 17p11.2 (Smith-Magenis syndrome) and deletion 16p11.2 (autism and intellectual disability), and co-discovered almost 70 human disease genes.
Dr. Dobyns has also designed and published the major classification systems now in use for brain malformation, and several of the terms that we now use for these disorders come from his work, for example: "malformations of cortical development"; "cobblestone malformation", and "dysgyria". He has also made contributions on the causes of neurodegenerative disorders and developmental disorders of other systems, such as vascular malformations. Dr. Dobyns has served as Principle Investigator on major NIH grants since 1999, and recently published his 400th peer-reviewed scientific paper. In recognition of these and other accomplishments, he received the 2018 Bernard Sachs Award for research in neuroscience with relevance to the care of children with neurological disorders from the Child Neurology Society.
Neurodevelopmental disorders especially those associated with abnormal brain size, malformations and epilepsy, vascular malformations, mosaicism.
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