CARE for RARE is a nation-wide research program focusing on the improvement of both the diagnosis and treatment of rare diseases. Led out of the Children’s Hospital of Eastern Ontario (CHEO) Research Institute in Ottawa, Canada, CARE for RARE includes 21 academic sites across the country, and is recognized internationally as a pioneer in the field of genomics and personalized medicine.
Its team uses state of the art DNA sequencing technology to identify new rare disease genes for patients across Canada and around the world, and develops novel therapeutic approaches. Together, 80 physicians and 50 scientists work to advance rare disease research as part of the CARE for RARE program.
There are more than 7,000 rare genetic diseases in Canada, which have a devastating impact on some one million Canadians and their families: two-thirds of these diseases cause significant disability; three-quarters affect children; more than half lead to early death; and, almost none has any targeted treatment. Further, more than one-third of these diseases remain unsolved (their genetic cause is unknown). Building on the work of the Care4Rare Canada Consortium, the C4R-SOLVE project is working to identify the genetic cause of unsolved rare diseases and make genomic sequencing available to Canadians for rare disease diagnosis. Genomic sequencing will speed up the diagnostic process, thereby ending or even preventing years of diagnostic testing and visits to multiple specialists. Providing a timely diagnosis improves the care and wellbeing of patients and their families and reduces unnecessary healthcare spending.
Key to C4R-SOLVE’s success will be new sequencing technologies and improved worldwide data sharing. In addition, the group will work with provincial ministries of health to determine how best to include genomic sequencing as a clinical test to diagnose rare diseases, beginning with Alberta and Ontario. In doing so, C4R-SOLVE will more than double our ability to diagnose unsolved rare disease, while building the infrastructure and tools needed to improve rare disease diagnosis worldwide. Accurate and early diagnosis will optimize care, improve the wellbeing of patients and their families, provide new insights into these devastating diseases, and potentially save at least $28 million/year in health-care spending.
Dr. Kym Boycott is a Medical Geneticist at the Children’s Hospital of Eastern Ontario (CHEO) and Clinician Scientist at the CHEO Research Institute. She is a Professor of Pediatrics and holds a Tier II Research Chair in Neurogenetics from the Faculty of Medicine at the University of Ottawa. She has been the recipient of the Canadian Institutes of Health Research Clinical Investigatorship Award from the Institute of Genetics, the SickKids Foundation Young Investigator Award and the Basil O’Connor March of Dimes Young Investigator Award. Dr. Boycott moves the international rare disease agenda forward through her role as the Chair of the Diagnostics Committee of the International Rare Disease Research Consortium.
Dr. Alex MacKenzie is a principal investigator at the CHEO Research Institute and a Professor in the Department of Medicine at the University of Ottawa. He is a specialist in the field of Spinal Muscular Atrophy, where he has published extensively in the areas of molecular genetics of pediatric disease. Dr. MacKenzie's team is developing a strategic toolbox and preclinical research pathway for inherited disorders and orphan diseases. The lab has identified gene subsets for three disorders – Duchenne Muscular Dystrophy, Myotonic Dystrophy, and Spinal Muscular Atrophy – and the goal is to broaden the research to include other genetic disorders.