Esmat Karimi

Year entered the Ph.D. Program: ABBS Fall 2019; Genetics Spring 2020

Research Advisor: Henk Granzier

Research Topic: Gene discovery in and therapy development for inherited myopathies


Research Interests: My research focuses on gene discovery in and therapy development for inherited myopathies. We are working on two therapeutic strategies. One is studying the effect of Omecamtivemecarbil (OM) on skeletal muscle biopsiesof Nebulin-based nemaline myopathy patients(with different type of mutation and different level of nebulin expression) to investigate if it can improve muscle function in patients.We also interested in studying if OM effectiveness is different in NEB-based patients with different nebulin expression. In second therapeutic strategy, based on previous findings of Granzier lab about intolerability of partial super-repeat deletion in Nebulin gene, we are collaboratingwith Dr. James Dowling’s lab at University of Toronto, to study the effect of full super-repeat deletion in Crispr-Cas9-based genome-edited zebrafish or mouse models of Nebulin-based nemaline myopathy. Furthermore, as a collaborative work with Dr. Vandana Gupta at Harvard Medical School, we are working on using an integrated approach including WES/WGS, transcriptomicsand functional study to unravel the causal genes in a cohort of patients with inherited myopathies.