Cardiac Precision Medicine Program

Genome Sequencing

Our team has performed WGS on over 2,700 individuals with childhood-onset heart disease, decoding hidden causes and identifying genes that shape disease progression. Through Precision Child Health: Comprehensive Sequencing for Childhood Life-Long Disorders, part of Genome Canada’s Precision Health Initiative, we’re expanding sequencing to accelerate discovery. In tetralogy of Fallot and transposition of the great arteries, genetic cause detection has increased four-fold with better splice variant detection. For cardiomyopathy, we’ve identified the cause in twice as many families as conventional testing allows.

Findings otherwise undetected are returned to families through the Heart Centre Biobank and Cardiac Genome Clinic, helping inform screening and care decisions.

One of the world’s largest pediatric biobanks

The Heart Centre Biobank fuels our research through the generosity of families who choose to participate in pediatric heart disease research, a contribution we’re deeply grateful for. It’s among the largest biorepositories for childhood-onset heart disease in the world, and the first of its kind in Canada, with over 10,200 participants of all ages, spanning children and adults.

Through the biobank, researchers and clinicians gain access to biological samples and data essential to studying the causes of heart failure, developing new treatments, and delivering precision care for congenital heart disease.

Stem cells and gene editing

We’ve built one of the largest cell banks from children with heart disease, using patient-derived stem cells to model disease and test new drugs, speeding the search for treatments.

Cardiomyopathy is the leading cause of heart failure and sudden cardiac death in children. Our team reprograms patient samples into stem cells, turns them into heart cells, edits gene mutations, and studies how these cells behave, clarifying how genetic heart disease develops.

This has led to breakthroughs: myosin inhibitors repaired abnormalities and normalized cardiomyocyte function in stem cell models, leading to success in a pediatric trial. It also restored vascular smooth muscle function in Williams Beuren syndrome and helped develop targeted cardiomyopathy treatments.

AI and Big Data in Heart Failure Research

We use artificial intelligence to automate echocardiogram image analysis and detect early warning signs through continuous bedside monitoring of critically ill children.

By integrating this data with large-scale genomic, transcriptomic, proteomic, and other biological datasets, we’re developing precision tools to diagnose heart failure earlier, predict patient outcomes, and identify new drug targets.