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Department
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Program in Genomics
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Hospital Title
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Associate in Medicine
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Academic Title
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Associate Professor of Neurology
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Phone
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617-919-4030
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Fax
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617-730-0253
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Email
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Elizabeth Engle
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Location
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300 Longwood Avenue
Enders-5
Boston MA 02115
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Elizabeth Engle's research focuses on uncovering the genetic causes of common and complex strabismus. In particular, the lab's primary goal has been to understand the molecular basis of a group of pediatric eye movement disorders referred to as the congenital cranial dysinnervation disorders (CCDDs). To that end, research projects in the Engle laboratory include family studies to locate and identify the genes mutated in the various forms of these disorders. Once a gene is identified, they study its normal and abnormal protein product to determine the role of the gene in health and disease.
The Engle lab has:
- Established that the CCDDs result from errors in the development of cranial neurons and their axons in the brainstem and orbit.
- Identifed that CFEOM2 results from loss of function mutations in a transcription factor, PHOX2A.
- Identifed that Duane syndrome with radial anomalies results from heterozygous mutations in the transcription factor SALL4.
- Identifed that CFEOM1 results from heterozygous mutations in a developmental kinesin, KIF21A.
- Identifed that Horizontal gaze palsy with progressive scoliosis results from loss of function mutations in the axon guidance molecule, ROBO3.
- Identifed that the BSAS and ABSD syndromes result from loss of function mutations in the homeodomain protein, HOXA1.
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Elizabeth Engle received her MD from The Johns Hopkins School of Medicine, and did an internship and residency in pediatrics at The Johns Hopkins Hospital. She then served as the neuropathology fellow at Massachusetts General Hospital for a year, followed by a neurology residency in the Harvard Longwood Program, specializing in Child Neurology at Children's Hospital Boston. She completed her training as a genetics research fellow at Children's.
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- Yamada K, Andrews C, Chan W-M, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Ravi Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nature Genetics,2003;35:318-321.
- Jen JC, Chan W-M, Bosley TM, Wan J, Carr JR, Rub U, Shattuck D, Salamon G, Kudo L, Ou J, Lin DD, Salih MA, Kansu T, Dhalaan H, Al Zayed Z, MacDonald DB, Stigsby B, Plaitakis A, Dretakis EK, Gottlob I, Pieh C, Traboulsi EI, Wang Q, Wang L, Andrews C, Yamada K, Demer JL, Karim S, Alger J, Geschwind DH, Deller T, Sicotte NL, Nelson SF, Baloh RW, Engle EC. Mutations in a human robo gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 2004; 304: 1509-1513.
- Tischfield MA, Bosley TM, Salih MAM, Alorainy IA, Sener EC, Nester MJ, Oystreck DT, Chan W-M, Andrews C, Erickson RP, Engle EC. Human HOXA1 syndrome disrupts brainstem, inner ear, cardiovascular, and cognitive development. Nat Genet. Oct;37(10):1035-7. Published online 11 Sept 2005.
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