Dr. Elizabeth Engle is a Senior Associate of Neurology and Professor of Neurology and Ophthalmology in the department of Genetics at Boston Children’s Hospital.
Dr. Elizabeth Engle is one of the world's leading authorities on the genetics of eye movement disorders. Her ground-breaking research has uncovered the clinical features and genetic causes of rare forms of congenital strabismus (misaligned eyes) and ptosis (drooping eyelids), and led to the definition of a new category of human malformation syndromes, the "Congenital Cranial Dysinnervation Disorders." Dr. Engle has identified the genes mutated in multiple complex strabismus syndromes 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. Most recently Dr. Engle has also begun a large-scale clinical and genetic study of more common forms of strabismus, a problem that affects up to 5 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), a member of the FM Kirby Neurobiology Center and the Program in Genomics, and a senior investigator for The Manton Center for Orphan Disease Research.