Welcome to the Heart Centre Biobank
A provincial and international research network aimed at improving outcomes in heart disease through enhanced prevention and treatment.
Happier Children, Healthier Hearts.
Children can have different types of heart diseases, such as cardiomyopathies, which can be childhood onset or congenital. Congenital heart defects occur in one out of every 100 newborns, but the causes of most forms of congenital heart defects are not known. Today, advances in technology permit us to sequence the entire genome of an individual. This has opened up new opportunities to do large-scale studies to find out which genes cause heart disease in children and adults.
This multi-centre research network has resulted in the establishment of the first Ontario province-wide biorepository and registry of patients with congenital and other forms of heart disease.
Today, this is now one of the biggest childhood heart disease biobank registries in the world, with over 10,600 participants!
The network provides a resource to investigators to study the genetic and environmental causes of heart defects and other diseases through the study of DNA, tissue, skin, and blood samples from affected individuals.
The ultimate goal is to develop better ways to diagnose, prevent, and treat disease in children and adults and to improve their overall health and well-being. This exciting initiative, the first of its kind in Ontario, is an example of leveraging our expertise to promote international collaboration and innovation in human disease research.
Seema Mital, MD
Principal Investigator, Heart Centre Biobank Registry
Heart Centre Biobank Video
If you are interested in participating, check out this short video that will tell you all about our study! Feel free to contact us using the form here if you have any questions or would like to find out more.
Our Biobank Family
Upcoming Events
Cardiac Precision Medicine in the 21st Century
Join us at the 10th International Cardiovascular Genomic Medicine & SickKids Cardiac Precision Medicine Conference from October 29-31, 2025 at the Peter Gilgan Centre for Research and Learning in Toronto, ON, Canada.
The conference will explore the latest advancements in genomics, multiomics, artificial intelligence, digital technology, precision therapeutics for cardiac disorders, and social, ethical, and legal frameworks for the implementation of precision medicine. Learn More and Register Here: cardiacprecisionmedicine.com
Recent Highlights
A validated heart-specific model for splice-disrupting variants in childhood heart disease
By combining genome and RNA sequencing data, the team developed and validated a cardiac-specific machine-learning model that identified high-confidence canonical and non-canonical splice-disrupting variants associated with congenital heart disease. This improved the genetic yield by identifying a significant burden of non-canonical splice variants associated with congenital heart disease otherwise not detectable through panel or exome sequencing! Full article here
Myosin inhibitor reverses hypertrophic cardiomyopathy in genotypically diverse pediatric iPSC-cardiomyocytes to mirror variant correction
Pathogenic variants in MYH7 and MYBPC3 account for the majority of hypertrophic cardiomyopathy (HCM). Targeted drugs like myosin ATPase inhibitors have not been evaluated in children. By generating patient and variant-corrected iPSC-cardiomyocytes from pediatric HCM patients harboring single variants in MYH7, MYBPC3 or digenic variants. Compared with isogenic and healthy controls, variant-positive CMs show sarcomere disorganization, higher contractility, calcium transients, and ATPase activity. However, only MYH7 and biallelic MYBPC3 variant-positive CMs show stronger myosin-actin binding. Targeted myosin ATPase inhibitors show complete rescue of the phenotype in variant-positive CMs and in cardiac Biowires to mirror isogenic controls. The response is superior to verapamil or metoprolol. Myosin inhibitors can be effective in genotypically diverse HCM highlighting the need for myosin inhibitor drug trials in pediatric HCM. Full article here
Read Ted Rogers Centre for Heart Research summary here.
Whole genome sequencing reveals new genetic marker for cardiomyopathy
Using computational methods developed at SickKids, scientists identify tandem repeats are expanded in DNA of patients with cardiomyopathy. Full SickKids article here.
“The SickKids-led study, published in eBioMedicine, part of The Lancet Discovery Science, indicates that tandem repeats – a form of genetic variation – are more often expanded in individuals with cardiomyopathy, and may cause four per cent of cases. Tandem repeat expansions (TREs) are known to contribute to over 60 conditions, often with a hereditary component.“
Implementing Precision Care: Introducing the PRIMaCY Sudden Cardiac Death Risk Calculator a groundbreaking integration into the EPIC electronic health record system!
This cutting-edge digital tool, endorsed by the American Heart Association/American College of Cardiology, provides a personalized 5-year risk prediction for life-threatening arrhythmias in children with hypertrophic cardiomyopathy.
In a Canadian first, the PRIMaCY tool has seamlessly merged into hospital information systems through a strategic partnership with MDCalc. This integration empowers clinicians with the ability to incorporate clinical, imaging, and genetic factors into the algorithm, bringing personalized medicine to the forefront of hypertrophic cardiomyopathy care. Now, physicians can make informed decisions about ICD insertion, enhancing patient outcomes.
Fueled by funding from the Ted Rogers Centre for Heart Research Translation and Commercialization Committee and CIHR (PIs, Seema Mital, Melanie Barwick, Samantha Anthony, Emily Seto), this EHR-compatible risk calculator is poised to launch across leading medical centers in Canada. Learn more about the game-changing PRIMaCY calculator here.
SickKids VS: Heal The Future
The SickKids VS: Heal The Future campaign showcases the Precision Medicine for Cardiomyopathy (PRIMaCY) risk calculator. Full Toronto Star article here.
“At the forefront of the campaign is Precision Child Health, or PCH — a model of care that focuses on an individual patient’s needs ranging from their genetic code to their postal code, SickKids says. “The goal is to is to make sure we’re providing effective therapies and tailoring it to the needs of the child,” said Dr. Seema Mital, a cardiologist and head of cardiovascular research at the hospital. PCH means using data and other technology to diagnose patients quicker, treat them more effectively and better predict illness.”
Personalized Genomics and the Future of Congenital Heart Disease: A Spotlight on Early Careers
On May 25th, 2023 Heart Centre Biobank Researchers along with other members of the ERA-PerMed funded PROCEED (PeRsOnalized Genomics for CongEnital HEart Disease) consortium hosted a scientific symposium at Amsterdam University Medical Centre. Trainees and early career investigators take center stage and shine a spotlight on their exciting and innovative discoveries on personalized medicine in congenital heart disease with a special focus on tetralogy of Fallot and transposition of the great arteries.
The Prevalence and Association of Exercise Test Abnormalities with Sudden Cardiac Death and Transplant-Free Survival in Childhood Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) can be associated with an abnormal exercise response. This international cohort study in pediatric HCM patients found having an abnormal exercise test was independently associated with lower transplant-free survival especially in those with an ischemic or abnormal blood pressure response with exercise. These findings argue for routine exercise testing in childhood HCM as part of ongoing risk assessment.
Contact Us
For any questions, or to find out more, please get in touch with us at anytime.