Elizabeth Engle

Elizabeth Engle, MD

Professor, Neurology and Ophthalmology, Havard Medical School; Investigator, Howard Hughes Medical Institute; Senior Research Associate, The Broad Institute of MIT and Harvard; Senior Research Associate, Harvard Medical School.

Research Focus

Cranial motor neuron an axon development.

Brief Research Description

Dr. Engle's lab has found that the developmental anatomy of human cranial motor neurons, which originate in the brainstem and send axons to innervate the cranial muscles, is stereotypical, tractable, and conserved in model organisms, thus providing a beautiful paradigm for more complex neurodevelopmental processes. They study aberrant cranial motor neuron development by identifying human congenital disorders of eye and face movement, defining their genetic etiologies, and uncovering their molecular pathways and disease mechanisms. They also study normal cranial motor neuron development in mouse and zebrafish.

Key Publications (PMCIDs)

Mutant alpha2-chimaerin signals via bidrectional ephrin pathways in Duane syndrome
Nugent AA, Park JG, Wei Y, Tenney AP, Gilette NM, DeLisle MM, Chan W-M, Cheng L, Engle EC.
J Clin Invest, 2017 May 1;127(5):1664-1682. PMCID: PMC5409791

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.
Di Gioia SA, Connors S,2 Matsunami N,2 Cannavino J,2 Rose MF,2 Gilette NM, Artoni P, de Macena Sobreira NL, Chan W-M, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN, Moebius Syndrome Research Consortium, Carey JC,* Robertson SP, Manoli I,* Engle EC.*
Nature Commun, 2017 Jul 6;8:16077. PMCID: PMC5504296

Recessive MYF5 mutations cause external ophthalmoplegia, rib, and vertebral anomalies.
Di Gioia SA,1 Shaaban S,1 Tüysüz B, Elcioglu NH, Chan W-M, Robson CD, Ecklund K, Gilette NM, Hamzaoglu A, Tayfun GA, Traboulsi EI, Engle EC.*
Am J Hum Genet, 2018 Jul 5;103(1):115-124. PMCID: PMC6035164

Neuronal specific TUBB3 is not required for normal neuronal function but is essential for timely axon regeneration.
Latremoliere A,1 Cheng L,1 DeLisle MM,2 Wu C,2 Chew S, Hutchinson EB, Sheridan A, Alexandre C, Latremoliere F, Sheu S-H, Golidy S, Omura T, Huebner EA, Fan Y, Whitman MC, Nguyen EH, Hermawan C, Pierpaoli C, Tischfield MA, Woolf CJ, Engle EC.*
Cell Rep, 2018 Aug 14;24(7):1865-1879.e9. PMCID: PMC6155462

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