Research Assistant Professor, Department of Neuroscience and Physiology
My lab focuses on neurodevelopmental neurocristopathies in the central and autonomic nervous systems. We study Hirschsprung disease (HSCR), which affects the enteric nervous system, Familial Dysautonomia (FD) which affects the peripheral nervous system, and Mowat Wilson Syndrome (MWS) which affects tissues of the central nervous system. Many patients with FD and MWS also present with HSCR, suggesting that in certain cases the pathways affected in these diverse disorders converge. We aim to further the understanding of these disorders by focusing on three broad themes:
1. Genetic diversity of Neurocristopathies: Whole genome and whole exome sequencing of a patients.
2. Connecting cell type specific responses across neuronal neurocristopathies: To gain a more in-depth understanding of the effects of known disease variants during nervous system development we are deriving enteric neurons from hESCs and patient iPSCs in order to catalog the cellular defects due to patient specific mutations. This will allow us to explain the phenotypic diversity seen in the ENS in these patients.
3. Cellular therapeutics : Due to their unique multipotency and developmental plasticity, there is a broad interest in capturing the regenerative capacity of neural crest cells via stem cell-based treatments. We use CRISPR based approaches to repair patient specific mutations in iPSCs to improve phenotypic outcomes.
435 E 30th Street
10, 1012
New York, NY 10010
Research Assistant Professor, Department of Neuroscience and Physiology at NYU Grossman School of Medicine
Johns Hopkins University School of Medicine, Aravinda Chakravarti Lab
Genome research. 2021 Nov 15; 31(12):2199-208
Human genomics. 2021 Jul 13; 15(1):44
Proceedings of the National Academy of Sciences of the United States of America (PNAS). 2019 Dec 09; 116(52):26697-708
Human molecular genetics. 2019 Sep 15; 28(18):3137-3147
New England journal of medicine. 2019 Apr 11; 380(15):1421-1432
European journal of human genetics. 2018 04; 26(4):561-569
Annual review of genomics & human genetics. 2017 08 31; 18:45-63
Human molecular genetics. 2017 05 15; 26(10):1811-1820