PiN Faculty Member - Elizabeth Engle, MD

Elizabeth Engle, MD

Professor of Neurology and Ophthalmology
Investigator, Howard Hughes Medical Institute

Boston Children's Hospital
F.M.Kirby Neurobiology Center
Center for Life Science, Room 14-075
3 Blackfan Circle
Boston, MA 02115
Tel: 617-919-4030
Fax: 617-919-2769
Visit my lab page here.

My lab investigates aberrant cranial motor neuron development by identifying human congenital disorders of eye and face movement, defining their genetic etiologies (both coding and noncoding), and uncovering their molecular pathways and disease mechanisms. Cranial motor neurons provide a unique and powerful system to study neuronal connectivity because of the small number of motor neurons within distinct nuclei and the straightforward tractable trajectories of their axons that can be visualized in three dimensions. Moreover, errors in their development result in visible, reproducible human phenotypes that consistently translate to mouse and zebrafish models.

Major projects in the lab include (1) studies of embryonic wildtype and mutant cranial motor neuron development through advanced imaging, single cell RNA sequencing, spatial transcriptomics and epigenomics (single cell ATACseq, cut-and-run, etc.), and mouse and zebrafish gene manipulations; (2) interpretation of >900 whole genome sequences from families with congenital disorders of eye and face movement, focusing on noncoding and structural variation as well as coding variants; (3) functional and mechanistic studies of genetic variants using mouse and zebrafish modeling, stem cell differentiation to the cell types of interest, and in vitro approaches. These studies will define: how these motor neurons acquire distinct identities, form cranial nuclei and subnuclei, and target specific cranial musculature; how these processes are disrupted in human development to result in birth defects; and why these motor neurons are selectively vulnerable to or spared in specific neurodevelopmental and neurodegenerative disorders.

Last Update: 9/16/2020


For a complete listing of publications click here.



© 2016 President and Fellows
of Harvard College