Elizabeth Engle, MD
Program in Genomics
F.M. Kirby Neurobiology Center
|Hospital Title||Senior Associate in Neurology|
|Academic Title||Professor of Neurology and Ophthalmology|
300 Longwood Avenue
Boston MA 02115
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.
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 Children's Hospital Boston, 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 Children's Hospital Boston. 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.
- Tischfield MA et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010 Jan 8; 140(1):74-87.
- Miyake N et al. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science 2008 Aug 8; 321(5890):839-43.
- Tischfield MA et al. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. Nat Genet 2005 Oct; 37(10):1035-7.
- Jen JC et al. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004 Jun 4; 304:1509-13.
- Yamada K et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genet 2003 Dec; 35:318-21.
To see a complete list of Dr. Engle's publications in PubMed, click here.