Ethylin W Jabs, MD
img_Ethylin W Jabs
ADJUNCT PROFESSOR | Genetics and Genomic Sciences
Research Topics
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
Multi-Disciplinary Training Area
Development Regeneration and Stem Cells [DRS], Genetics and Genomic Sciences [GGS]
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.

http://www.mssm.edu/research/labs/ethylin-wang-jabs-laboratory

BA, Johns Hopkins University

Publications

Selected Publications

Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption. Arielle S. Strasser, Ana Silvia Gonzalez-Reiche, Xianxiao Zhou, Braulio Valdebenito-Maturana, Xiaoqian Ye, Bin Zhang, Meng Wu, Harm van Bakel, Ethylin Wang Jabs. Nature Communications

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness. Denise K. Liberton, Konstantinia Almpani, Rashmi Mishra, Carol Bassim, Carol Van Ryzin, Bryn D. Webb, Ethylin Wang Jabs, Elizabeth C. Engle, Francis S. Collins, Irini Manoli, Janice S. Lee. International Journal of Environmental Research and Public Health

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules. Daniel O. Dodd, Sabrina Mechaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh K. Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, David A. Parry, Peter A. Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A. Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A. Mohamed, Stuart Aitken, Philippe Gautier, Finn R. Reinholt, Robert A. Hirst, Chris O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin W. Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A. Wambach, Daniel J. Wegner. Science

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Faculty Spotlight: Ethylin Jabs