Objectives: Our group is involved in the following tasks:

1. Next generation sequencing (NGS) to identify novel genes for cardiomyopathies

2. Functional characterization of cardiomyopathies using patient specific induced pluripotent stem cells (hiPSCs)

3. An in vivo large- scale small molecules screening using Drosophila model

4. Humanized transgenic mouse model of cardiomyopathy

   • Our work on the molecular genetics of cardiomyopathies led to a major discovery as we unraveled an ancient Myosin Binding Protein c3 (MYBPC3) gene deletion as a major risk factor for South Asians. To date, approximately 60 million people carry the heterozygous deletion. This variant, in its homozygous nature, causes severe childhood cardiomyopathies. Now, we have generated a humanized cardiac specific transgenic mouse models for MYBPC3 using standard Cre-loxP recombination methods. We obtained five viable founder lines and are in the process of characterizing the physiological, functional and molecular aspects of this mouse model. We will also utilize this pre-clinical model for novel drug discovery.

5. Role of RAF1 in cancer and cardiomyopathy