Genomics-led research is improving the diagnosis & treatment of rare diseases in Canada | #RareDiseaseDay2023
Genome Canada
Transforming genomics research into solutions | Transformer la recherche en génomique en solutions
Did you know it’s #RareDiseaseDay2023 – a day to raise awareness for people across the globe impacted by rare diseases???
Today, we’re sharing a few of the many stories of Canadians with rare diseases whose lives have been transformed by genomics-enabled precision health. Explore below.
Laurent's story
Diagnosing a rare disease can be a long, confusing journey for patients and families. No one understands this journey better than Laurent Tessier, 17, who survived an aggressive cancer thanks to a genomics research program at Montreal's CHU Sainte-Justine.
Anna's story
Anna Boileau spent the first 12 years of her life in and out of hospitals as health professionals struggled to diagnose her rare disease. In this article, Anna's mom, Mallory Boileau, shares her daughter's journey to a diagnosis and the impact that increased access to genomic-sequencing will have for Canadians.?
Sienna's story
12-year-old Sienna, a rare disease patient from Kingston, Ontario, has a rare form of epilepsy that affects her daily life. Genomics research works to provide children, like Sienna, with the diagnosis and treatment they need, and offer hope with the future of precision health treatment.??
Q&A with Dr. Victor Martinez?
At the heart of our All For One precision health initiative are six implementation projects located across Canada. In this article, Dr. Victor Martinez discusses how precision health projects will impact Atlantic Canada and enable a new standard of care for rare disease patients.??