The Rare Disease Discovery Hub was designed to help support patients and families with undiagnosed rare diseases, as well as their medical teams, to access research testing when standard clinical tests have been unable to find a diagnosis. We are able to re-analyze genetic sequence data from tests that were already completed, perform other types of lab testing, and partner with other researchers in BC, Canada, or internationally, to try to find answers.
Sometimes, despite our best efforts, we are not able to find a diagnosis for families, but we hope that our research helps the field of rare diseases as a whole. This would not be possible without the partnership of families like yours!
Referrals must be made by a health-care provider who is willing to partner with our team. If you think you or your family might be a good fit for our research program, speak with your doctor or other health care provider about making a referral. You can also contact discovery.hub@bcchr.ca if you have any questions.