Medical Advisory Board

Dr. Jab’s research and clinical practice have focused on developmental genetics and patients with birth defects. Her clinical areas include prenatal diagnosis, birth defects, multiple congenital anomalies, craniofacial and limb anomalies, achondroplasia, macrosomia, micro- and macrocephaly, oral facial clefts, short stature, spina bifida and multiple associated syndromes like Crouzon’s, DiGeorge, Down’s, Fetal Alcohol, Fragile X and Turner’s syndromes. Dr. Jabs is an advisor to several parent support groups, including ‘Smile Train’.

Dr. Jab’s research focuses on unraveling the mechanisms underlying the mutations that cause birth defects and malformations. Her laboratory was responsible for the identification of the first human mutation in a homeobox-containing gene, MSX2, an important regulatory gene in development. In her studies on craniosynostosis, she discovered that similar mutations in the gene, fibroblast growth factor receptor 2 (FGFR2), cause both Jackson-Weiss syndrome and Crouzon syndrome. Dr. Jab’s team also validated novel genetic links underlying ‘sagittal craniosynostosis’, a common birth defect, where the bones on the side and top of the skull fuse prematurely. This genome-wide association study was published in a reputed medical journal, Nature Genetics in November 2012. The group also demonstrated in a mouse model that inhibiting the protein p38 resulted in the prevention of craniosynostosis in a rare genetic disorder, Beare-Stevenson cutis Gyrata syndrome (BSS).

For some of these conditions, Dr. Jabs demonstrated the association of advanced paternal age at conception. She has studied the increased frequency of spontaneous mutations arising in sperm with aging. She also initiated a database of clinical and genetic data for people with craniofacial disorders including those with Möbius syndrome, a rare neurological disorder, to help identify the genetic root of the condition. Dr. Jabs has published close to a hundred research articles and book chapters on the genetics underlying craniofacial development and defects. Her research has been funded through multiple grants from the NIH, CDC, patient advocacy groups, and Icahn School of Medicine.