The Manton Center for Orphan Disease Research
Elizabeth Engle, MD
Elizabeth Engle, MD, is the world's leading authority 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's research has given scientists a new picture of brain development and birth defects. By discovering the genetic causes of eye movement disorders that occur together with other symptoms, she has also shed light on an expanding list of disorders, including certain forms of deafness, mental retardation, motor impairments, heart and artery malformations and limb abnormalities.
The importance and potential impact of studying these rare (and generally ignored) disorders has been recognized by several national and international awards, including the 2005 E. Mead Johnson Award for Research in Pediatrics, considered the highest award for pediatrics research, and the 2006 Sidney Carter Award in Child Neurology, considered the highest award for research in child neurology. In 2008, Dr. Engle became a Howard Hughes Medical Institute Investigator.
|To learn more about eye-movement disorders, visit the Children's interactive feature Mapping Eye-Movement Disorders|