Our research focuses on genes essential to the development of the cranial nerves, a diverse group of sensory and motor nerves originating in the brain that control our ability to see, hear, taste, smell and carry out a number of other essential functions. Mutations in these genes can cause complex eye-movement disorders, facial weakness, deafness, loss of smell (anosmia), and difficulties with swallowing and respiration. Some individuals with these symptoms may also have other motor, sensory, intellectual, behavioral and social disabilities.
Our lab has defined the clinical manifestations and identified the genetic causes of a series of such disorders, including: congenital fibrosis of the extraocular muscles (CFEOM) types 1-3, Duane syndrome, Duane radial ray syndrome, horizontal gaze palsy, and Moebius syndrome. Several of the identified disease genes (TUBB3, KIF21A, CHN1, ROBO3) alter the ability of the axon to grow normally, resulting in stalled growth or inappropriate guidance.
Some members of the lab are now studying how these human mutations alter basic underlying developmental mechanisms including microtubule dynamics, kinesin transport and cell signaling. Other members of the lab continue to identify new disease genes for these so-called congenital cranial dysinnervation disorders, as well as for the common forms of strabismus, which affect up to 5 percent of the general population.
Click here to view an interactive which explores six genes we identified that are associated with eye disorders.
Mutations in these genes impair one or more of the cranial nerves (CN III, CN IV, and CN VI) innervating the six muscles that move the eye--limiting its movement.
To read more about our work, visit our lab web site or my page on the HHMI web site.
About Elizabeth Engle
Elizabeth Engle is Professor of Neurology and Ophthalmology at Harvard Medical School and an Investigator of the Howard Hughes Medical 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.
She is also an Associate Member of the Broad Institute.
Engle attended Middlebury College and the Johns Hopkins School of Medicine. She trained in pediatrics at Johns Hopkins, in neuropathology at Mass General Hospital, and in adult and child neurology in the Longwood Neurology Training Program and at Boston Children's Hospital. Following her residencies, she was a research fellow with Louis Kunkel, PhD, and later Alan Beggs, PhD, in the Division of Genetics at Children's prior to establishing her own research lab in 1997.
In addition to her research, Engle continues to care for child neurology patients, primarily consulting for children and adults with congenital cranial dysinnervation disorders.
Engle's honors include the E. Mead Johnson Award for Research in Pediatrics from the Society for Pediatric Research, the Sidney Carter Award in Child Neurology from the American Academy of Neurology and a Research Award for Vision from the Alcon Institute.