The Children’s Hospital of Eastern Ontario (CHEO) in Ottawa, Ontario is dedicated to advancing rare disease research by improving diagnostic capabilities, developing effective treatments, and enhancing the  well-being of children and families affected by rare diseases, through collaborative and innovative scientific investigations. Main areas of focus are genomics and neurology. The Care4Rare program at CHEO generates diverse rare disease data, encompassing clinical information, genomic data, and patient-reported outcomes to advance understanding and improve the diagnosis and treatment of rare pediatric conditions.

Patient Involvement: Patients are involved in data generation through participation in clinical trials, genomics research, biobanks, and patient registries.

Initiatives: Through leadership in the Care4Rare program, CHEO scientists have identified the genetic cause, and thus aided in the diagnosis, of hundreds of rare diseases. Further, they have developed platforms and protocols for sharing and collecting data; instigated the integration of genomics into diagnostic care pathways; and improved access to information and genetic testing in the rare disease community.

For more information: https://www.care4rare.ca/

For general inquiries: https://www.care4rare.ca/contact-impact

Pubmed search: https://pubmed.ncbi.nlm.nih.gov/36332610/