By Sophie Muir | Chair of Trustees
The CACNA1C Community Registry continues to welcome and receive participants worldwide with identified CACNA1C gene changes.
People are unique genetically and even though we are all the same gene group (ie. CACNA1C) there are different genetic variants. Genetic variants are not the same, they don't necessarily act in the same way and they might have different mechanisms in terms of how they are treated. Numbers matter when it comes to rare disease conditions. Everyone needs to be counted.
Raising awareness of CACNA1C and our registry is crucial - here is a picture from the end of January in the Poster Zone at the two day Festival of Genomics & Biodata, the largest genomics event in the UK and in Europe which boasts approximately 7,000 attendees.
The CACNA1C Community registry provides the best chance of having real influence on research and the first annual platform $10,000 invoice is anticipated at the end of the month. Your support enables this project to be sustainable so thank you again for joining us on this journey.
Lots of projects advancing our mission in the pipeline – 2023 is going to be big for CACNA1C!
All the best
Sophie
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