Ethylin W. Jabs, M.D.

Dr. Ethylin Wang Jabs is a Professor and Chair of the Department of Clinical Genomics at Mayo Clinic. She is board certified in clinical genetics, cytogenetics, molecular genetics and genomics, and pediatrics. Her clinical focus is dysmorphology of rare and complex conditions, particularly craniofacial disorders. She cares for patients with craniosynostosis and cleft lip and palate.

She is an adjunct Professor of Genetic Medicine and Professor of Pediatrics at Johns Hopkins. Dr. Jabs has been a member of the NIH NIDCR Board of Scientific Councilors and the NIH National Advisory Child Health and Human Development Council. She is an advisory board member of Smile Train, Moebius Syndrome Foundation, and Born a Hero Research Foundation. She is a co-editor of the book, Genomics in the Clinic.

Her research group has identified the genetic cause for many syndromes in homeobox and helix-loop-helix transcription factors, fibroblast growth factor receptors, and connexins. Her experimentation applies sequencing technology with RNA expression and protein interaction studies in animal, organoid, biochemical, and iPSC cellular systems. Generated large data sets are elucidating the mechanisms of sequence variants, signaling pathways and networks involved in developmental processes as well as phenotype-genotype correlations. Therapeutic strategies are being evaluated in mouse models.