Research/Areas of Interest
Mutations in the CTNNB1 gene cause CTNNB1 Syndrome, a severe neurodevelopmental condition characterized by learning and motor disabilities, due to partial or complete loss of function in one allele, resulting in haploinsufficiency. The CTNNB1 gene encodes the protein β-catenin, which is found in all cells and has a significant impact on growth, development, and maturation. Β-catenin interacts with synaptic adhesion complexes and participates in the canonical Wnt signaling pathway. Currently, I am focusing on assessing the possibility of using various Glycogen Synthase Kinase-3 inhibitors to normalize β-catenin and Wnt target expression levels in CTNNB1 syndrome patient induced pluripotent stem cells (iPSCs) and cortical neurons differentiated from the patient iPSCs
Education
- BS, Biology & Psychology, University of Massachusetts - Boston, Boston, MA