Our vision
Our vision is a world where shared knowledge and understanding lead to a cure for everyone with a CACNA1C rare genetic variant.
Our mission
Our mission is to improve the diagnosis, treatment and care of individuals worldwide with CACNA1C-Related Disorders, including Timothy Syndrome, and to support the families and carers of those diagnosed.
Our strategic purposes
- Raising awareness
- Improving diagnosis, treatment and care
- Supporting the global community
- Providing information and advice
- Driving research and clinical development
Our team
We are a charity run entirely by families and volunteers.
Trustees
Support staff
Mission Support Officer funded by the CZI Rare As One
Research and Public Engagement Officer funded by the CZI Rare As One
Scientific Advisory Board
WCAT Clinical Lecturer in Forensic Psychiatry, Neuroscience and Mental Health Innovation Institute, Cardiff University
Clinical Scholar, Neurology & Neurological Sciences. Postdoctoral Scholar, Neurology & Neurological Sciences
Stanford Medicine
Research Associate, NMHII, Cardiff University
Postdoctoral Researcher, University of Oxford
Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome
Group Leader of Evolutionary Genomics, Earlham Institute
Director of Translational Neuroscience, Boehringer Ingelheim
Annual report
Download our latest annual report.
Our history
1999
After losing their son, Connor, his parents started a nonprofit organisation called HOPE, for children and young adults with cardiac arrhythmias. At that time, the gene responsible for Timothy Syndrome (TS) had not yet been discovered.
Once the gene was found in 2004, the focus turned specifically to TS. With the help of Katherine Timothy, they developed a website and informational brochures to distribute to medical professionals within multiple disciplines. They also exhibited at numerous cardiology and paediatric conferences to educate the medical community.
At that point, there were very few known cases of Timothy Syndrome worldwide. The goal was to raise awareness among clinicians about TS and its characteristics to improve diagnosis and promote research.
This work led to Timothy Syndrome being registered as a known rare disease with the National Organization of Rare Diseases.
2015
The Timothy Syndrome Alliance (TSA) was first set up as a support group in the USA in 2015.
Sadly, just a few months after the group was formed, the 5-year-old son of one of the co-founders, Lee, lost his battle with Timothy Syndrome. Read the full story about Lee and the formation of TSA.
2016
It was around this time that our current Chair, Sophie Muir, found out that her son, Calvin, had Atypical Timothy Syndrome (now known as a CACNA1C-Related Disorder) – but she didn’t find the Facebook support group until early 2017.
Keen to find out more, Sophie and Calvin travelled to the USA in 2018 to attend the SADS (Sudden Arrhythmia Death Syndromes) Foundation Conference, where they met 5 other families who had been affected by the same condition.
2019
In 2019, we became a registered charity in the UK. Our work is international, supporting families around the world.
Today
We continue to grow as a community and work towards achieving our vision where shared knowledge and understanding lead to a cure for everyone with a CACNA1C rare genetic variant.
Make a donation
Children with CACNA1C-Related Disorders desperately need early diagnosis, treatment and care.
Your contribution will help:
- raise awareness to drive research and clinical development
- enhance scientific understanding
- reduce the isolation faced by families
With your help, treatment and a cure for future generations is closer to being found.
See other ways that you can support us.