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Care for Rare Research Program

Care4Rare 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, 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.

Currently, 25% rare disease patients wait 5-30 years for a diagnosis; 40% initially receive a misdiagnosis; and half will never receive a diagnosis. In contrast, the evidence-based approach being developed by CARE for RARE will result in an accurate rapid diagnosis for many affected by rare disease. Securing a clear diagnosis means that patients and families can make future projections about their healthcare, tap into best practice guidelines, seek reproductive counseling, and potentially start therapies.

In addition, only 5% of children with rare disease have access to an effective treatment. By investigating approved drugs for effectiveness in other diseases, CARE for RARE hopes to identify novel therapies for some of those currently without any treatment. 

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