Specialty	Clinical Genetics - MD
Gender	Female
E-mail	ethylin.jabs@mssm.edu
Education and Training	MD, Johns Hopkins School of Medicine
	BA, Johns Hopkins University
	Residency, Pediatrics, Johns Hopkins Hospital
	Internship, Flexible Intern, Cornell Medical Center
	Fellowship, Genetics, Johns Hopkins School of Medicine

Dr. Jabs, is the Professor and Vice Chair of the Department of Genetics and Genomic Sciences.

Dr. Jabs is the Director of the Medical Genetics Residency Training Program.

Education and Training	MD, Johns Hopkins School of Medicine
	BA, Johns Hopkins University
	Residency, Pediatrics, Johns Hopkins Hospital
	Internship, Flexible Intern, Cornell Medical Center
	Fellowship, Genetics, Johns Hopkins School of Medicine
Board Certification	Clinical Genetics - MD

Specialty	Clinical Genetics - MD
Board Certification	Clinical Genetics - MD

Birth defects occur in approximately five percent of newborns, and there are more than 700 inherited conditions with craniofacial and limb abnormalities. The research focus of Dr. Jabs' laboratory is to increase our understanding of the molecular basis of human malformation disorders including Crouzon, Apert, Treacher Collins, Moebius, Goldenhar, oculodentodigital, and Roberts syndromes. Mutations for syndromic craniosynostosis, cleft lip and palate, and mandibulofacial dysostosis conditions were identified in homeobox and helix-loop-helix transcription factors, growth factor receptors, connexins, and cohesion proteins. Current experimentation involves gene expression and protein interaction studies in animal model, biochemical, and cellular systems. These studies are elucidating the pathogenetic mechanisms of these mutations, signaling pathways involved in normal and abnormal developmental processes, and phenotype-genotype correlations. Population association studies are being conducted on non-syndromic congenital anomalies such as isolated craniosynostosis and cleft lip with or without cleft palate.

Zhao X, Zhang X, Zhao J, Levya JA, Zhu H, Yang W, Zeng X, Ao Y, Liu Q, Liu G, Lo WH, Jabs EW, Amzel LM, Shan X, Sun M. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet 2007; 80(2): 361-371.

Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Evenson D, Jabs EW, Glaser RL, Pearson FS, Tiemann-Boege I. Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, aneuploidies in sperm. Proc Natl Acad Sci, USA 2006; 103(25): 9601-9606.

Wang Y, Jabs EW, Yang F, Karim BO, Iacovelli AJ, Cai J, Lerner CP, Richtsmeier JT, Leszl JM, Hill CA, Yu K, Ornitiz DM, Elisseeff J, Huso DL, Xiao R. Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse. Development 2005; 132(15): 3537-3548.

Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, Joenje H, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, van Gosliga D. Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast EC01 that is essential for the establishment of sister chromatid cohesion. Nature Genetics 2005; 37(5): 468-470.

Vekemans M, Korshunova Y, Tidwell R, Messina DN, Winston JB, Lovett M, Etchevers H, Ash D, Kotch LE, Jabs EW, Attie-Bitach T, Auge J, Mattei G, Cai J. Gene expression in pharyngeal arch 1 during human embryonic development. Hum Mol Genet 2005; 14(7): 903-912.

Fluck CE, Tajima T, Pandey AV, Arlt W, Miller WL, Verge CF, Jabs EW, Mendonca BB, Fujieda K, Okuhara K. Mutant P450 oxidoreductase causes disordered steroidgenesis with and without Antley-Bixler syndrome. Nature Genetics 2004; 36(3): 228-230.

Jabs EW, Glaser RL. Dear old dad. Sci Aging Knowledge Environ 2004; 2004(3): re1.

Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Jabs EW, Innis JW, Dinulos MB, Christian C, Hannibal M, Keegan CE. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 2003; 72: 408-418.

Jabs EW. A TWIST in the fate of human osteoblasts identifies signaling molecules involved in skull development. J Clin Invest 2001; 107(9): 1075-1077.

Isaac C, Marsh KL, Paznekas WA, Meier UT, Dixon MJ, Jabs EW, Dixon J. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol Biol Cell 2000; 11: 3061-3071.