Projects and Grants
Our studies are elucidating the pathogenetic mechanisms of mutations that cause human malformations, signaling pathways and networks in abnormal developmental processes, and phenotype-genotype correlations. Current experimentation involves gene expression, epigenetic, and protein interaction studies in mouse models, biochemical, and cellular systems including induced pluripotent stem cells. State of the art technologies are being used including laser capure microdissection, single cell RNA sequencing, and whole genome sequencing.
Human population association studies are being conducted on nonsyndromic congenital anomalies such as isolated craniosynostosis and cleft lip with or without cleft palate. Alterations in candidate genes and genome wide variations account for abnormal as well as craniofacial variation in head shape, facial features, and bony structure in the general population. Based on these findings, therapeutic strategies are being tested to ameliorate abnormal craniofacial development and morphology.
We are also performing research involving clinical trials using educational interventions on genomics of complex disorders for physicians and the community toward translating research findings on genetic information to the public.
Our projects have been funded through multiple grants from the NIH, CDC, Moebius Syndrome Foundation, Smile Train, and Icahn School of Medicine.
NIH P01 HD078233, Craniosynostosis Network
NIH U01 DE024448, Transcriptome Atlases of the Craniofacial Sutures
NIH R01 DE022988, Midface and Upper Airway in Craniosynostosis
NIH U01 HD079068, Birth Defects: Moebius Syndrome and Related Facial Weakness Disorders
March of Dimes #6-FY16-169, Folate Pathway Neural Tube Defects
Biomarin Pharmaceutical, Inc. BMN111-13-043, Efficacy of BMN 111 on the Correction of Craniosynostosis after Once-Daily Subcutaneous Injections to Crouzon (Fgfr2C342Y/+) Mice
NIH T32 HD075735-03, Interdisciplinary Training in Systems and Developmental Biology and Birth Defects