Our mission
STXBP1 UK Foundation exists so that no family in the UK faces an STXBP1 diagnosis without support, information and community — and to fund research towards better treatment and, ultimately, a cure.
Our values
The principles that guide everything we do.
Family first
Every decision we make starts with what genuinely helps families living with STXBP1, day to day.
Community
No family should feel alone with a rare diagnosis. We connect people who understand.
Evidence-led
We fund and follow rigorous research, and we're honest about what is and isn't yet known.
Transparency
We publish how funds are used and report openly to our community and regulators.
Why We Exist
No family should have to face an STXBP1 diagnosis alone - or be told there is no clear path forward.
STXBP1-related disorders can affect almost every part of life, including movement, communication, learning and independence. Families often become carers, advocates and experts overnight, navigating an uncertain future while fighting for the support their loved one deserves.
STXBP1 Foundation UK exists to bring our UK community together and turn that shared determination into action. We connect families, raise awareness, support those affected and help drive research towards better treatments.
By uniting families, clinicians, researchers and supporters, we can make sure our collective efforts are focused where they can have the greatest impact.
Our ambition goes beyond managing symptoms. We believe in a future with effective treatments and, ultimately, a cure. Until that day, we will work to ensure that nobody affected by STXBP1 feels alone, overlooked or without hope.
Trustees
Dan
Chair
I'm Dan, Chair of the STXBP1 UK Foundation. Husband to Lizzie, dad to Charlie and Freddie — Charlie has an STXBP1 disorder, and our world changed overnight. Since then we've found a community of resilience and generosity. I'm proud to help raise awareness, support families, and push research forward alongside our trustees. Thank you for being here — it means the world.
Claire
Trustee
I’m Claire, mum to three gorgeous kids. My daughter was diagnosed with STXBP1 in 2022 at around 18 months old. Since receiving her diagnosis I’ve been determined to do all I can to make a difference in the STXBP1 community. I feel very lucky to have been introduced to Jamie and Dan, who share the same goals as myself. Let’s make a difference together, thank you for your support.
Jaime
Trustee
Hi, I'm Jaime, mum to two amazing children including Erin, diagnosed with STXBP1 aged 3. Our journey hasn't always been easy, but it's filled with hope. I'm passionate about supporting families, raising awareness, and building a future where children like Erin are understood, supported, and celebrated. 💙 Follow STXBP1 UK Foundation on Facebook to join our community.
STXBP1 UK Foundation is a registered charity in England and Wales (No. 1218061).
Want to help us do more?
Every donation, fundraiser and volunteer hour brings us closer to better care and treatment for STXBP1.