Roberts syndrome (RBS) is a rare genetic disorder characterized by limb and facial abnormalities. RBS is caused by mutations in the ESCO2 gene, which encodes a protein belonging to the Eco1/Ctf7 family of acetyltransferases. We are using an Esco2 conditional knock out mouse model as well as patient-derived iPS cells to study the limb reduction defects in this syndrome and the pathogenic mechanism of mutant ESCO2.

Craniosynostosis Network is an organized and synergistic research program to understand the genetic basis and developmental mechanism of craniosynostosis (http://labs.icahn.mssm.edu/peterlab/craniosynostosis-network/). Project III: Systems Biology of Bone in Coronal Nonsyndromic Craniosynostosis We generate and differentiate patient-derived iPS cells and analyze the transcriptomic profiles during osteogenic differentiation to study systems biology of coronal nonsyndromic craniosynostosis (cNSC). An in vitro osteogenic differentiation model has been developed and high-throughput RNA-seq datasets on human normal and cNSC mesenchymal cells, preosteoblasts and osteoblasts are used to capture the genetic regulation of gene expression and guide network construction.

Neural tube defects (NTDs) are birth defects of the brain and spinal cord. They are a major cause of death and lifelong disability worldwide. Folic acid is known to reduce the risk of a pregnancy being affected by a neural tube defect but it is unclear how folate metabolism is involved in neural tube development. Folate responsive and non-folate responsive NTD mouse models are used for transcriptome and epigenome profiling in neural tubes to explore the molecular pathogenesis of folate pathway-related NTDs.