How can genomics drive faster, more equitable diagnoses for rare diseases? We’re diving into it now at Genomics Forum 2025 — exploring the power of innovation and access to change lives.  
#GenomicsForum2025 #RareDisease #GenomicsForAll #RareToAware

Kate knew something was wrong when her newborn son stopped nursing—but doctors dismissed his symptoms. It took a critical emergency and a rare genetic test to uncover the truth.
➡️ Read her powerful story on our most recent blog post: www.genomebc.ca/blog/meet-kate

#RareToAware

Meet Lisa Superina: A Mother’s Relentless Fight for Answers  - Genome BC When Lisa Superina’s daughter, Nora, started showing signs of illness at just five months old, she knew something wasn’t right. But like so many families navigating rare diseases, the journey […]

For Lisa Superina, the road to a rare disease diagnosis wasn’t easy. Whole exome sequencing missed it—but whole genome sequencing finally provided answers. Now, she’s sharing her story to help others.
Read the story here: genomebc.ca/blog/meet-lisa
#RareToAware

A parent’s intuition is powerful. Lisa knew something wasn’t right when her daughter’s health declined—but initial tests came back negative. She didn’t stop pushing for answers.

Read her story here: genomebc.ca/blog/meet-lisa

#RareToAware

Next-Gen Sequencing (WES & WGS) is transforming care w faster, more precise diagnoses & personalized treatments. Genome BC has led this shift in BC for 20+ years.

Next week, meet a rare disease advocate who found answers through Whole Genome Sequencing. Stay tuned

#RareToAware

Before we dive into the stories of our inspiring advocates, let’s take a moment to understand what a #RareDisease is.

Watch this 45 second video to have a better understanding of what it means to have a rare disease.

www.youtube.com/shorts/G8kOe...

#RareToAware

Follow @genomebc.bsky.social to learn more about Canadians impacted by rare diseases and their powerful efforts to improve diagnosis/treatment options and build communities of support for others.

#RareDiseaseDay #RareToAware

Honouring #RareDiseaseDay: Faces of Strength & Advocacy 💜

Let's recognize the parents fighting not just for answers, but for research that can change lives.
In the coming weeks, we’ll be sharing their journeys—putting faces to the fight for awareness + action.
#RareToAware