Samantha Firth

• Bsc (Hons) Biochemistry
• Investigating Differential Gene Expression in Cardiac Developmental Defects which lead to Adult Cardiomyopathy

Inherited hypertrophic cardiomyopathy (HCM), leads to abnormal thickening of the heart muscle walls, affecting the hearts ability to beat. Rho Kinase (ROCK) may have a role in HCM development. ROCK is expressed throughout the heart, with important cellular functions. Several genes with altered expression in ROCK-downregulated embryos were identified, and located using In situ hybridisation. Gene functions were studied to determine whether the observed HCM heart was explainable. The genes studied could be novel pathways involved in development of HCM, or ROCK could be a new previously unlinked gene. The study of downstream consequences could explain the cause of HCM.

Funding source: Wellcome Trust