What is a Splice Site Variant?

January 26, 2024 by Lizzie Cox

Here you will learn how these mutations disrupt gene expression and lead to a range of genetic disorders such as Duchenne muscular dystrophy.

Blue Monday Blog: Hear from Victoria, our Fundraising Officer and Duchenne Mum

Written by Victoria Edwards, Action Duchenne’s Fundraising Officer and mum to Dougie (who lives with Duchenne) and Allie. Feeling Blue “This Monday was Blue Monday, and wow… I really felt it. It was grey, drizzly, my son was up half the night and ended up off school from sheer tiredness. My daughter went in to …

“Making contact with Action Duchenne provided a lifeline”

“Making contact with Action Duchenne provided a lifeline”: Find out why Ben Dolling decided to run the London Marathon dressed as a parrot! Harry was diagnosed with Duchenne muscular dystrophy in 2019 Ben and his wife have 3 children: a daughter in year 3 and a son in his first year of university and Harry, …

The Power of Shared Experience: “Honestly, it would’ve been a much harder road without having joined this group.”

Action Duchenne have monthly online meet-ups for Duchenne dads, mums and grandparents, facilitated by our Family Support Officers and designed to enable connection with those who truly understand. A Duchenne diagnosis can often set people apart from the support systems they usually rely on. Our support groups mean you can meet people who know exactly …

What is a Splice Site Variant?

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