Sturge Weber UK was registered as a charity with the Charity Commission on 27th January 1993 after a group of parents who came together in 1990 looking for support and information on this rare neurological disorder with the help of Contact a family. We offer various resources and services to individuals and families affected by the condition, including information, support groups, and financial assistance.
Sturge Weber UK inspires to promote research and share knowledge to empower individuals diagnosed with Sturge Weber Syndrome and their families and carers. Giving strength to create a supportive, inclusive and caring community whilst raising both public and professional awareness.
Sturge-Weber Syndrome is primarily caused by somatic mutations in the GNAQ gene, which occur during early foetal development. These mutations result in the overgrowth of blood vessels in the skin and brain. The GNAQ gene provides instructions for producing a protein that plays a role in cell signalling.
The mutations in GNAQ are somatic, meaning they occur in a subset of cells during embryonic development rather than being inherited from a person’s parents. This is why Sturge Weber Syndrome typically occurs sporadically and is not passed down through generations in a predictable manner.
The overabundance of blood vessels in the skin leads to the characteristic facial birthmark known as a port-wine stain. Additionally, abnormal blood vessels in the brain can cause various neurological symptoms, including seizures, developmental delays, and other issues associated with Sturge-Weber Syndrome.
While the exact mechanism by which GNAQ mutations lead to the specific features of Sturge Weber Syndrome is still being studied, these genetic changes play a fundamental role in the development of the condition. The severity and manifestations of the syndrome can vary widely among affected individuals.
To provide strength and support for individuals diagnosed with Sturge Weber Syndrome and their families and carers. – To promote awareness of the syndrome and to raise both public and professional awareness of the condition. – To promote medical research into the causes and treatment of this syndrome.
Meet the team of Trustees and Volunteers behind the charity and find out a bit more about them and their roles.
At Sturge Weber UK we believe in the power of individuals coming together to create positive change. Volunteering with us offers a unique opportunity to make a real impact on the lives of those in need. Here’s why you should consider joining and becoming a Friend of Sturge Weber UK.
Research into Sturge Weber Syndrome is ongoing and involves investigations into various aspects of the condition, including its genetic basis, clinical manifestations, potential treatments, and ways to improve the quality of life for individuals affected by Sturge Weber Syndrome.
When looking at developing our strategy for Sturge Weber UK, we felt it was important to consider the following key elements:
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