I am interested in detailed modeling of diseases, in particular familial dysautonomia (FD), using iPS cells derived from patients with varying severity of the disease symptoms. One goal is to correlate the phenotype of the patients with the phenotype seen in the neural crest lineage derived from the patient’s iPS cells.

I also am applying the Adeno-associated virus (AAV) technology to rescue the disease causing mutation in the FD patient-specific iPS cells as well as to create transgenic ES or iPS lines that can be used for various studies in the lab.