Ethylin Wang Jabs, M.D.

Professor, Departments of Pediatrics, Medicine, and Plastic Surgery
Director, Center for Craniofacial Development and Disorders
B.A., The Johns Hopkins University
M.D., The Johns Hopkins University
Internship, Cornell Medical Center
Pediatric Residency,The Johns Hopkins University Medical
Genetics Fellowship,The Johns Hopkins University

Main Interests:

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.

Research Interests:

• Developmental genetics
• Molecular dysmorphology
• Craniofacial disorders
• Chromosome structure and function
• Links:
  Center for Craniofacial Development and Disorders (CCDD)

Ethylin Wang Jabs' Lab

Clinical Activities:

• Board Certification: American Board of Pediatrics; American Board of Medical Genetics, Clinical Genetics, Clinical Cytogenetics, and Clinical Molecular Genetics
• Clinical Interests: medical genetics, dysmorphology, cleft lip/palate, craniosynostosis
• Clinic:

Medical Genetics Clinic
Johns Hopkins Outpatient Center (JHOC)
8th floor, Pediatric Specialty Clinics area
601 North Caroline Street
Baltimore, MD 21205
Phone: 410-955-3071 Fax: 410-614-9246

Educational Activities:

• Preceptor, Predoctoral Training Program in Human Genetics
• Preceptor, Predoctoral Training Program in Cellular and Molecular Medicine
• Preceptor, Postdoctoral Training Program in Medical Genetics
• Courses taught: Developmental Genetics (Co-Director), Short Course in Medical and Mammalian Genetics, Bar Harbor
• Director, International Collaborative Genetic Research Training Program (link) www.hopkinsmedicine.org/ICGRTP/trainingGrant/
• Medical Genetics (Genetic Medicine) Clinical Residency Program and Genetic Subspecialty Postdoctoral Fellowships

Recognition and Leadership Roles:

• 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

Publications:

• Jabs EW, Müller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, Snead ML, and Maxson R: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 75:443-450, 1993. Abstract
  
  
• Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, and Jaye M: Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genetics 8:275-279 , 1994. Abstract
  
  
• Li X, Park WJ, Pyeritz RE, and Jabs, EW: Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nature Genetics 9(3):232-233, 1995. Abstract
  
  
• Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW: Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nature Genetics 11:462-464, 1995.  Abstract
  
  
• Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow SJ, Cohen MM Jr, and Jabs EW: Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. Nature Genetics 13:492-494 , 1996. Abstract
  
  
• Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, De Luna RIO, Delgado CG, Gonzalez-Ramos M, Kline AD, and Jabs EW: Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genetics 15:36-41, 1997. Abstract
  
  
• Wise CA, Chiang LC, Paznekas WA, Sharma M, Musy MM, Ashley JA, Lovett M, and Jabs EW: TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Natl Acad Sci, USA 94:3110-3115, 1997.  Abstract
  
  
• Oldridge M, Zackai EH, McDonald-McGinn DM, Iseki S, Morriss-Kay GM, Twigg SRF, Johnson D, Wall SA, Jiang W, Theda C,Jabs EW, and Wilkie AOM : De novo Alu element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 64(2):446-461, 1999.  Abstract
  
  
• 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.  Abstract
  
  
• 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. Abstract
  
  
• 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.  Abstract
  
  
• Glaser RL, Jabs EW: Dear old dad.  Sci Aging Knowledge Environ 2004(3):re1, 2004. Abstract
  
  
• 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. Abstract
  
  
• 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. Abstract
  
  
• 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. Abstract
  
  
• 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. Abstract
  
  
• Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D: Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, aneuploidies in sperm.  Proc Natl Acad Sci, USA 103(25):9601-9606, 2006.  Abstract
  

Contact Information:

Ethylin Wang Jabs, M.D.

Administrative Assistant: Erin Brittain

Johns Hopkins University School of Medicine
Institute of Genetic Medicine
733 N Broadway Broadway Research Building, 419
Baltimore, MD 21205

Phone: (410) 955-4160
Fax: (410) 502-5677
E-Mail: ejabs1@jhem.jhmi.edu