Dr. Elizabeth Engle is a Senior Associate in Neurology and Principal Investigator in the F.M. Kirby Neurobiology Center at Boston Children’s Hospital, Professor of Neurology and Ophthalmology at Harvard Medical School, and Investigator of the Howard Hughes Medical Institute.

Dr. Elizabeth Engle is one of the world’s leading authorities on the genetics of eye and facial movement disorders. Her ground-breaking research has uncovered the clinical features and genetic causes of rare forms of congenital strabismus (misaligned eyes), ptosis (drooping eyelids), and facial weakness and led to the definition of a new category of human malformation syndromes, known as the “Congenital Cranial Dysinnervation Disorders” (CCDDs). Dr. Engle has identified the genes mutated in multiple CCDDs and demonstrated that these disorders can result from errors in the growth and development of motor neurons (brain cells that guide movement) and their cranial nerves as they extend from the brainstem to the eye muscles. Her studies of these orphan disorders have dramatically advanced our knowledge not only of these specific disorders, but also of steps critical to human motor neuron and brainstem development. Dr. Engle also studies the genetic basis of common forms of strabismus, a problem that affects up to five percent of the general population.
Dr. Engle is Professor of Neurology and Ophthalmology at Harvard Medical School, Investigator of the Howard Hughes Medical Institute, and an Associate Member of the Broad Institute. At Boston Children’s Hospital, she is a member of the Departments of Neurology, Ophthalmology, and Medicine (Genetics) and the F.M. Kirby Neurobiology Center and Program in Genomics and Senior Investigator for The Manton Center for Orphan Disease Research.

Selected Publications:

https://pubmed.ncbi.nlm.nih.gov/?term=elizabeth+engle

Contact information:

Email: engle.admin@childrens.harvard.edu

Publications: