Francois Bernier, MD, FCCMG, FRCPC
Dr. François Bernier is an academic clinical geneticist and Professor of Medical Genetics and Pediatrics at the University of Calgary, where he serves as Director of the Alberta Children’s Hospital Research Institute (ACHRI). He specializes in the diagnosis and care of patients with rare genetic diseases, cardiogenetic conditions, and prenatal genetic concerns. His research focuses on discovering genes responsible for rare disorders and translating genomic innovations into clinical practice. As the Project Lead of the Canada First Research Excellence Fund’s One Child Every Child initiative, Dr. Bernier is advancing a bold vision to ensure all children are healthy, empowered, and thriving.
Here is what he has to say about rare diseases:
In your opinion, what are some of the biggest challenges facing the rare disease community today?
“I think the overall challenge is, still, a lack of coordinated effort across care providers, researchers, community organizations, industry, and ultimately founders to work together. There are common areas of need which the CRDN is focusing on in our three key pillars, but now we need to mobilize and work together.”
What are specific areas within the rare disease landscape that particularly excite you and why?
“There are so many exciting opportunities, to be honest. As a rare disease clinician and researcher, I feel like the doors of the forbidden candy shop are opening. It is incredible to see the power of genomics reaching the bedside, curing diseases that for much of my career just felt like science fiction. Patients, mostly driven by the incredible patient organizations, are finding the voice to support each other, but also to advocate for rare diseases. Wow, what a movement, but we all need to pitch in to ensure support and empowerment is a priority.”
How would you describe yourself in one sentence?
“I’m a rare disease clinician, researcher, ally, and advocate who is inspired by the resilience of the RD patients and families and communities.”
Hear from Dr. Francois Bernier about the launch of CRDN