05/03/2025
Ottawa, Ontario — Wednesday March 5, 2025
Two CHEO Research Institute projects have secured more than $30 million in funding from Genome Canada as part of Canada’s ambitious genomics data initiative to drive precision health and economic growth.
“As world leaders in genomics and rare disease research, and trailblazers in newborn screening, the CHEO Research Institute is perfectly poised to help transform health care in Canada by unlocking genome sequencing data to provide more personalized, preventative and cost-effective care for all children, youth and their families,” said Dr. Jason Berman, CEO and Scientific Director, CHEO Research Institute, and Vice-President Research, CHEO. “Thank you to Government of Canada and Genome Canada for its investment in growing Canada’s genomic datasets and their commitment to coordination, collaboration, and equity.”
Canadian Precision Health Initiative (CPHI) data generation projects at the CHEO Research Institute
Expanding the use of genomics to unravel rare diseases: Care4Rare EXPAND
The Care4Rare Consortium, based out of the CHEO Research Institute and led by Dr. Kym Boycott, Senior Scientist and Tier 1 Canada Research Chair in Rare Disease Precision Health at the University of Ottawa, has been a world leader in rare disease genomics since 2010.
As part of Genome Canada’s CPHI, Care4Rare will launch its latest initiative, C4R-EXPAND, to harness cutting-edge genetic technologies and transform the diagnostic landscape for rare genetic diseases.
Receiving $20 million over four years, C4R-EXPAND will generate and share 17,650 diverse rare disease datasets—including short-read genome, long-read genome, transcriptome, and methylome data— and aims to provide new genetic diagnoses for thousands of families.
“Leveraging the existing Care4Rare network and infrastructure, this funding will enable us to expand and enroll more than 7,000 families with undiagnosed rare diseases from across the country. Using the latest technology, we will improve rare disease diagnosis and reduce health disparities by enabling more accurate diagnoses and increasing visibility for families living with rare diseases,” said Dr. Boycott. “We are thrilled to be part of this landmark collaboration.”
In collaboration with The Hospital for Sick Children (SickKids), Alberta Children’s Hospital, CHU Sainte-Justine, and hundreds of clinicians and academics, C4R-EXPAND will enhance diagnostic accuracy, drive technological innovation, and improve equitable access to genomic medicine. By contributing an unprecedented, diverse dataset, this initiative will advance Canada’s leadership in precision health and bring long-awaited answers to families living with rare disease.
INFANT: Identifying at risk Newborns from the Analysis of NGS Testing
Newborn screening is a public health program that identifies treatable rare diseases at birth, providing millions of families with life altering early and precise diagnoses and treatment plans.
Most of the current (30+) rare diseases screened for at birth in Ontario are identified using metabolomics. However, many rare diseases are non-metabolic. With an increasing number of transformative therapies available in Canada for non-metabolic rare diseases, there is an urgent need to identify these conditions earlier in child’s life – ideally at birth. DNA based screening will identify these conditions.
Pilot programs worldwide are assessing whole genome sequencing (WGS) in newborn screening, termed genomic newborn bloodspot screening (gNBS). This method of screening will revolutionize precision health by enabling early detection of an expanding array of treatable diseases, optimizing patient outcomes and reducing health care costs. The INFANT project run at Newborn Screening Ontario (NSO), based out of CHEO, is the first to pilot this approach in Canada, working closely with Dr. Dianne Wherrett at SickKids on the project. NSO screens infants from Ontario, Newfoundland and regions of Nunavut.
“Genome sequencing has the potential to transform newborn screening in Canada by providing families with answers earlier in their child’s life so they can receive the latest treatments and the right care for them,” said Dr. Kristin Kernohan, Molecular Genetics Laboratory Head, Newborn Screening Ontario, and INFANT project lead. “With this funding we are eager to make Canada a leader in genomic newborn screening.”
Currently, NSO identifies ~0.5% of infants that require evaluation for rare diseases.
With $12 million from Genome Canada’s CPHI, NSO will triple the number of infants detected and treated for rare diseases using gNBS. As part of the project, NSO will collaborate with gNBS pilots in England, Australia and the United States, building on their success, to establish a Canadian gNBS pilot.