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

5. Role of RAF1 in cancer and cardiomyopathy

   • RAS-MAPK pathway plays a crucial role in the structural and functional development of myocardium. Gene mutations in RAS-MAPK pathway members leading to its aberrant signaling are a major cause of childhood onset cardiomyopathies in syndromic (RASopathies) or non-syndromic patients. Recently, we discovered a novel missense RAF1 variant associated with breast cancer and cardiomyopathy. In addition, we also observed novel compound RAF1 mutations in a patient with a new syndrome with cardiomyopathy (termed as cardio-skeletal- cutaneous syndrome). We are exploring the molecular mechanisms of these mutants including the pathway specific interplay between RAF1 and sarcomeric proteins using cellular and Drosophila models.