What is a Splice Site Variant?

January 26, 2024 by Lizzie Deeble

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

Educating, Connecting, Wellbeing at the Action Duchenne Annual International Conference 2024

Action Duchenne Annual International Conference 2024 was an unforgettable gathering of patients, families, experts, and supporters, all brought together to Educate, Connect, and support Wellbeing. Over two days, we hosted 368 attendees across 26 sessions, offering both learning and community-building moments. Reflecting on the experience, I’m thrilled to share some of our conference highlights and …

Help Develop Nutrition Information Resources for Duchenne Muscular Dystrophy

If you are a caregiver of/or a young person aged 7-25 with Duchenne, researchers from the University of Glasgow, and Edge Hill University, need your help to develop better nutrition resources for DMD. ⬇️ There are different ways you can join in and share your views! 💬 https://www.surveymonkey.com/r/TheNutritionStudy

Welcoming Autumn 2024

As we transition from the warmth of summer to the crisp embrace of autumn, it’s a moment to reflect on our progress and the importance of community support. A Personal Reflection This August marked the first anniversary of my sister’s passing. It was an emotional time for me, and I have felt her love and …

What is a Splice Site Variant?

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