Meha Kabra, PhD

Advisor: Bikash Pattnaik, PhD

Keywords: Leber congenital amaurosis, stem cell therapy, cellular and molecular biology, genetics, CRISPR gene editing, translational research, visual science

Education

BS 2007, Biotechnology, Holkar Science College, Indore, India
MS 2009, Biotechnology, Vellore Institute of Technology, Tamil Nadu, India
PhD 2018, Genetics, L V Prasad Eye Institute, Hyderabad, India

Research

Ms. Kabra’s research interest focuses on correcting the KCNJ13 gene mutations and creating an in vitro model of
LCA16 disease using a CRISPR-based gene/base editing approach. Several missense and nonsense
mutations have been reported in this gene, leading to Leber Congenital Amaurosis (LCA16), a severe
form of monogenic autosomal recessive retinal dystrophy. Mutations in this gene either affect the production of
the full-length protein, and it is trafficking to the membrane or its function. Her research aims to to correct these mutations. The targeted delivery of base-editing tools would help in planning generalized and precision treatment strategies for not only LCA16 but other genetic diseases. Even more enticing is the feasibility of efficient therapeutic base-editing for LCA16 in vivo that could potentially be applied to any gene to specifically correct loss-of-function point mutations and would be of therapeutic benefit. The optimized strategy would help in characterizing the yet uncharacterized mutations by introducing them into normal iPSC lines to model disease. This would also eliminate the need to obtain patient cells with a particular mutation.

Publications