Grant: CIHR Fellowship

Congenital heart diseases (CHD) are caused by structural abnormalities of the heart that are present at birth. CHD occurs in 1% of all births worldwide and are the leading cause of death from birth defects. 257,000 Canadians have CHD, most of them adults who require multiple surgeries and interventions. Surprisingly, the cause of the majority of CHD cases is unknown due to the large number of genes that can be affected or mutated in this disease. This is why I propose to study the genes involved in CHD, and more specifically, the regulation of the intermediary messenger RNA produced by these genes. The regulation of these messenger RNAs (mRNAs) by other small non-protein coding RNAs (miRNAs) is essential for the production of heart structures, such as the valves, which are often found to be abnormal in CHD. I will use powerful next-generation sequencing techniques and generate mutants of candidate genes to study their role in heart development and ultimately use these candidates in human genetic analyses to further the study of congenital heart disease.