What is a Splice Site Variant?

26 January 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.

Honouring George and Finding Community

Honouring George and Finding Community Remembering George one year on. “If I’d never experienced George having Duchenne, I wouldn’t be half the person I am now. He taught me so much about life. I truly believe that boys with Duchenne are just the most awesome people in the world.” On Sunday 26th April 2026, Louise Ruddick ran the …

Turning Challenges into Change – Our Story with Action Duchenne

I was introduced to Action Duchenne by the Muscle Team in Newcastle shortly after Oliver’s diagnosis in 2017. In those early, overwhelming days, their support meant everything. Members of the Support Team would call just to let me talk, vent, cry — whatever I needed. They were simply there, and that’s why I choose to support them every …

Louise’s London Marathon Story

Louise’s London Marathon Story Written by Louise Ruddick “My relationship with Action Duchenne came about very spontaneously at the beginning of January this year. My brother, George, was diagnosed with Duchenne back in 1992, just before his third birthday. He was obviously too young to be aware however the impact that it had on our …

What is a Splice Site Variant?

Footer

Subscribe to our mailing list