Professor
Interim Division Head, Developmental Medicine
Research Affiliate, Institute on Human Development and Disability (IHDD)
Dr. Doherty has devoted his research career to human hindbrain malformation conditions, studying their natural histories, genetic causes, developmental mechanisms, and treatments to improve the lives of affected individuals and their families. His group has enrolled >2000 families affected by a variety of hindbrain malformation conditions, following their progress for more than 20 years. Using genetic techniques that have evolved over time, Dr. Doherty’s group has identified genetic causes of tubulinopathy-related cerebellar dysplasia, TBCK- and TRAPPC12-related infantile encephalopathies, as well as Chudley-McCullough, Poretti-Boltshauser, and Joubert syndromes. His group’s work on natural history and genotype-phenotype correlations has also improved diagnostic, prognostic, and medical management information for patients.
Dr. Doherty’s clinical interests complement the research interests of his group. He cares for children with all types of neurodevelopmental conditions including brain malformations, hydrocephalus, spina bifida, intellectual disability, and cerebral palsy. He also provides prenatal counseling for women carrying fetuses with abnormal CNS imaging findings to provide a pediatric perspective on these conditions.