Center for Global Health Faculty

Director of Center for Craniofacial Development and Disorders

Academic Degrees

Departmental Address

Contact Information

Email:

ejabs1+jhem.jhmi.edu

Phone:

410-955-4160

Fax:

410-502-5677

Link:

Personal Website

Research and Professional Experience

Birth defects occur in approximately five percent of newborns, and there are more than 700 inherited conditions with craniofacial abnormalities. The research focus of Dr. Jabs' laboratory is to increase our understanding of the molecular basis of human developmental malformations, especially craniofacial disorders such as Crouzon, Apert,and Treacher Collins syndromes. Mutations for craniosynostosis and mandibulofacial dysostosis conditions were identified in homeobox and helix-loop-helix transcription factors and growth factor receptors. 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.

Keywords

Medical genetics, Developmental genetics, Molecular dysmorphology, Craniofacial disorders, Chromosome structure and function

Honors and Awards

Dr. Frank V. Sutland Professor of Pediatric Genetics; 1998-Present, NIH, NIDCR Board of Scientific Counselors, Member, 2000-2004; President of American Chinese Geneticist Association, 1996-1997; President of Society of Craniofacial Genetics, 1996-1998; NIH, Genome Study Section, Member, 1996-1999; NIH, Genetics of Health & Disease Study Section, Member, 2005; ASHG, Professional Ethics Committee, Chair, 2004-Present

Selected Publications

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

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

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

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

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

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

Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H: 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 37(5):468-470, 2005.

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