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Elizabeth C. Engle, MD
The Congenital Cranial Dysinnervation Disorders
Professor, Neurology and Ophthalmology, Harvard Medical School; Investigator, Howard Hughes Medical Institute; Boston Children's Hospital, Boston, MA
2 Riverside Circle, Roanoke, VA 24016
The human brain is highly organized and contains myriad axon tracts that follow precise pathways and make predictable connections. Model organism research has provided tremendous advances in our understanding of the principles and molecules governing axon growth and guidance. Remarkably, however, few human disorders resulting from primary errors in these processes have been identified. Using clinical data and genetic approaches in humans, we have identified the genetic basis of a series of congenital eye and facial movement disorders, and found that the mutations disrupt specific steps in the development of ocular cranial motor neurons and their connectivity to cranial musculature. These disorders are now referred to as the congenital cranial dysinnervation disorders. Through animal modeling, we have established that these mutations alter axon growth and guidance and are now studying how each alters transport, the cytoskeleton, and its associated proteins.