Diagnosing Rare Genetic Diseases in Children

There are more than 7,000 rare genetic diseases, many of which haven’t been identified yet. For more than one million Canadians and their families, these diseases can have a devastating impact.

Care4Rare will more than double our ability to diagnose unsolved rare disease and bring these capabilities to hospitals across Ontario and Canada, while building the infrastructure and tools for worldwide data sharing.


Dr. Kym Boycott, a Senior Scientist and Clinical Geneticist at CHEO, talks about the impact of rare disease research by diagnosing rare disease genes.

Led by Dr. Kym Boycott at the Children’s Hospital of Eastern Ontario Research Institute in Ottawa, Care4Rare is a pan-Canadian collaborative team of clinicians, bioinformaticians, and researchers focused on improving the care of people living with rare disease in Canada and around the world. Building on the outcomes of two earlier projects supported by Ontario Genomics (FORGE Canada 2010 and Enhanced Care for Rare Diseases 2012), this initiative includes 21 academic sites across the country and is recognized internationally as a pioneer in the field of genomics and personalized medicine.

Care4Rare’s work is speeding up the diagnostic process, preventing years of diagnostic testing and visits to multiple specialists that patients and their families would otherwise have to endure. Providing a timely diagnosis improves the care and wellbeing of patients and their families and reduces unnecessary healthcare spending.

Quick facts about Care4Rare’s innovations:
  • Care4Rare is increasing the connectivity between clinicians and scientists to translate genetic findings into understanding disease mechanisms and finding new treatments for patients with rare diseases;
  • Individuals with rare diseases and their families are now connected with others around the globe through RareConnect – an online platform that provides a supportive and safe environment to ask questions, share experience, and interact with others with a similar condition. There are currently over 31, 000 members and over 150 disease – specific communities, including a community for individuals without a diagnosis;
  • The time it takes to diagnose rare disease can be reduced to weeks versus years;
  • Treatments can be as straightforward as supplementing a single amino acid that is readily available and inexpensive.

For more information, please visit http://care4rare.ca/.

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