Clinical Molecular Genetics
Bone Biology, Brain Imaging, Cartilage Biology, Connexins, Cytogenetics, Developmental Biology, Embryology, Folates, Gene Discovery, Gene Expressions, Genetics, Genomics, Growth Factors and Receptors, Human Genetics and Genetic Disorders, Knockout Mice, Molecular Biology, Morphogenesis, Protein Kinases, Skeletal Biology, Transcription Factors, Transgenic Mice
Developmental and Stem Cell Biology [DSCB], Genetics and Genomic Sciences [GGS]
BA, Johns Hopkins University
MD, Johns Hopkins School of Medicine
Internship, Flexible Intern
Cornell Medical Center
Johns Hopkins Hospital
Johns Hopkins School of Medicine
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 including induced pluripotent stem cells. These studies are elucidating the pathogenetic mechanisms of these mutations, signaling pathways and networks 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. Based on these findings, therapeutic strategies are being tested in animal models to ameliorate abnormal craniofacial morphology. Her group is surveying the impact of these malformation conditions on the psychological well-being of the patients and their families.
She has also initiated a research program to evaluate genetics and genomics education for primary care physicians and the community served by Mount Sinai Center regarding the genetics of complex diseases, such as diabetes, coronary artery disease, cancer, and osteoporosis.
Genetics Studies of Moebius Syndrome
The purpose of the study is to identify the genetic factors that cause Moebius syndrome, a rare congenital disorder defined by partial or complete agenesis of the 6th and 7th cranial nerves, which control eye movements and facial expression. Our research group 1) ascertains clini...
Genetics Studies of Craniofacial and Limb
The purpose of our study is to increase our understanding of the molecular basis of human developmental malformations, especially craniofacial and limb disorders. Most of these conditions that we are studying are rare conditions occurring in less than 1 per 10,000 to 150,000 newb...
Sanderson SC, Suckiel SA, Zweig M, Bottinger EP, Jabs EW, Richardson LD. Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Sep;: 118.
Kling RR, Taub PJ, Ye X, Jabs EW. Oral clefting in china over the last decade: 205,679 patients. Plastic and reconstructive surgery. Global open 2014 Oct; 2(10): e236.
Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. JAMA ophthalmology 2014 Oct; 132(10): 1215-1220.
Rucker JC, Webb BD, Frempong T, Gaspar H, Naidich TP, Jabs EW. Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes. Brain : a journal of neurology 2014 Apr; 137(4): 1068-1079.
Sanderson SC, Diefenbach MA, Zinberg R, Horowitz CR, Smirnoff M, Zweig M, Streicher S, Jabs EW, Richardson LD. Willingness to participate in genomics research and desire for personal results among underrepresented minority patients: a structured interview study. Journal of community genetics 2013 Oct; 4(4): 469-482.
Justice CM, Yagnik G, Kim Y, Peter I, Jabs EW, Erazo M, Ye X, Ainehsazan E, Shi L, Cunningham ML, Kimonis V, Roscioli T, Wall SA, Wilkie AO, Stoler J, Richtsmeier JT, Heuzé Y, Sanchez-Lara PA, Buckley MF, Druschel CM, Mills JL, Caggana M, Romitti PA, Kay DM, Senders C, Taub PJ, Klein OD, Boggan J, Zwienenberg-Lee M, Naydenov C, Kim J, Wilson AF, Boyadjiev SA. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9. Nature Genetics 2012; 44(12): 1360-1364.
Webb BD, Shaaban S, Gaspar H, Cunha LF, Schubert CR, Hao K, Robson CD, Chan WM, Andrews C, MacKinnon S, Oystreck DT, Hunter DG, Iacovelli AJ, Ye X, Camminady A, Engle EC, Jabs EW. HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. American Journal of Human Genetics 2012; 91(1): 171-179.
Wang Y, Zhou X, Oberoi K, Phelps R, Couwenhoven R, Sun M, Rezza A, Holmes G, Percival CJ, Friedenthal J, Krejci P, Richtsmeier JT, Huso DL, Rendl M, Jabs EW. p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. Journal of Clinical Investigation 2012; 122(6): 2153-2164.
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H, FORGE Canada Consortium , Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics 2012; 90(5): 925-933.
Beaty TH, Ruczinski I, Murray JC, Marazita ML, Munger RG, Hetmanski JB, Murray T, Redett RJ, Fallin MD, Liang KY, Wu T, Patel PJ, Jin SC, Zhang TX, Schwender H, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Ye X, Wang H, Huang S, Jabs EW, Shi B, Wilcox AJ, Lie RT, Jee SH, Christensen K, Doheny KF, Pugh EW, Ling H, Scott AF. Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate. Genetic Epidemiology 2011; 35(6): 469-478.
Beaty T, Murray J, Marazita M, Munger R, Ruczinski I, Hetmanski J, Liang KY, Wu T, Murray T, Fallin M, Redett R, Raymond G, Schwender H, Jin S, Cooper M, Dunnwald M, Mansilla M, Leslie E, Bullard S, Lidral A, Moreno L, Menezes R, Vieira A, Petrin A, Wilcox A, Lie R, Jabs E, Wu-Chou Y, Chen P, Wang H, Ye X, Huang S, Yeow V, Chong S, Jee S, Shi B, Christensen K, Doheny K, Pugh E, Ling H, Castilla E, Czeizel A, Ma L, Field L, Brody L, Pangilinan F, Mills J, Molloy A, Kirke P, Scott J, Arcos-Burgos M, Scott A. A genome -wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4. Nature Genetics 2010; 42(6): 525-529.
Ng S, Buckingham K, Lee C, Bingham A, Tabor H, Dent K, Huff C, Shannon P, Jabs E, Nickerson D, Shendure J, Bamshad M. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics 2010; 42(1): 30-35.
Yoon S, Qin J, Glaser R, Jabs E, Wexler N, Sokol R, Arnheim N, Calabrese P. The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect. PLOS Genetics 2009; 5(7): e1000558.
Paznekas W, Karczeski B, Vermeer S, Lowry R, Delatycki M, Laurence F, Koivisto P, Van Maldergem L, Boyadjiev S, Bodurtha J, Jabs E. GJA1 mutations, variants, and connexin 43 dysfuntion as it relates to the oculodentodigital dysplasia phenotype. Hum Mutat 2009; 30(5): 724-733.
Gordillo M, Vega H, Trainer A, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam R, Uzielli M, Schnur R, Manouvrier S, Chang S, Blair E. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet; 17(14).
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their relationships with such companies.
Below are financial relationships with industry reported by Dr. Jabs during 2015 and/or 2016. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Other activities: Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership
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