Cardiac Precision Medicine Program

One in 100 children is born with a structural heart defect. Half will need a transplant in order to avoid – and survive – heart failure. We pursue treatments and diagnostic and predictive tools that target the underlying cause, often through whole genome sequencing.

DNA strand
Ted Rogers Centre for Heart Reearch signage at SickKids

This unique, translational program seeks to unravel the unique genome of every child with heart disease/failure in an effort to deliver precision and timely care, prevent complications, and improve outcomes.

Our team does so through a state-of-the-art biobank, next-generation sequencing technologies, disease modelling using induced pluripotent stem cells, AI-supported analytics, diverse collaborations, and patient partnerships. Unearthing genetic causes is critical in order to protect not just the patient but other family members from the devastating consequences of a missed diagnosis.

Searching the genome for precision approaches to treat:

Tetralogy of Fallot

Birth defect affecting normal blood flow from a baby’s heart to their lungs causing babies to be born “blue”.

Transposition of the great arteries

A defect where the two arteries leaving the heart are reversed, causing a shortage of oxygen-rich blood in the body.


A disease of the heart muscle that interferes with its ability to contract or relax.

Areas of Focus

Whole genome sequencing

Our team has performed whole genome sequencing on over 2,000 individuals with childhood onset heart disease, with data used to decode the missing causes and identify genes that modify the course of disease. People diagnosed with tetralogy of Fallot and Transposition of the Great Arteries – serious conditions requiring surgery to restore normal blood flow – are being sequenced and analyzed jointly as part of a multi-national collaboration through the PROCEED study. For cardiomyopathy, we have identified the genetic cause in twice as many families as with conventional genetic testing, and we’ve made new discoveries that help explain these heart defects.

Clinically actionable findings identified through our work that are undetected in practice are returned to patients in collaboration with the Cardiac Genome Clinic. These findings help families make informed decisions about family screening and planning, as well as better cope with the diagnosis.

One of the world’s largest pediatric biobanks

The Heart Centre Biobank fuels the work of our program through the generous participation of impacted families to whom we are forever grateful. It is among the largest biorepositories for childhood onset heart disease in the world, and the first in Canada. The biobank has over 10,200 participants of all ages, spanning children and adults.

It provides researchers and clinicians access to vital genetic samples and data – an invaluable resource for studying the causes of heart failure, developing new treatments, and delivering precision care.

Stem cells and gene editing

We have established one of the largest banks of cells (fibroblasts, lymphoblasts) from children with heart disease and are using cardiac lineages derived from patient iPSCs to model heart disease in a dish and test new drugs. The goal: to expedite the search for new therapies.

Cardiomyopathies are the leading cause of heart failure and sudden cardiac death in children. Our team reprograms samples from patients with cardiomyopathies into iPSCs, differentiates them into heart cells, edits gene mutations, and studies how they then behave.

The techniques have successfully rescued vascular smooth muscle cell function in Williams Beuren syndrome and led to targeted treatments for genetic cardiomyopathies.

AI and Big Data

We use artificial intelligence tools to develop automated echocardiographic image analyses and to detect early warning signals from continuous bedside monitoring of critically ill patients.

We then integrate these data with large scale genome, transcriptome, proteome, phenome and exposome data to develop precision tools for diagnosis of heart failure, prediction of outcomes and to identify new drug targets for heart failure.

Digital technology

Through this program we are developing smart wearables to enable remote monitoring of infants and children with heart failure as well as patient-centric digital tools to improve communication between physicians and patients.

We also integrate point-of-care decision support tools into electronic health records to enable precise risk prediction including predicting the risk of sudden cardiac death in children with hypertrophic cardiomyopathy.