Francois Bernier, MD, FCCMG, FRCPC
Dr. Bernier is the Director of the Alberta Children’s Hospital Research Institute (ACHRI) and a Professor in the Departments of Medical Genetics and Paediatrics at the Cumming School of Medicine at the University of Calgary. He served as head of Medical Genetics for over a decade, from 2013 to 2023, and is the scientific Director of both Precision Health and the Centre for Health Genomics and Informatics at the University of Calgary.
As a clinical geneticist with Alberta Health Services (AHS) and a physician at the Alberta Children’s Hospital, Dr. Bernier focuses on the identification of genes for rare genetic disorders. He is a leader in precision health with 20 years of experience in the diagnosis and management of patients with genetic diseases.
Dr. Bernier is co-principal investigator and the project lead of the University of Calgary’s One Child Every Child initiative, powered by partnerships with 132 organizations across 25 countries. He is also co-principal investigator for Care for Rare Canada, a research consortium that studies over 1,000 rare disorders.
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