Connect CACNA1C Global Network Conference
Our rare disease
CACNA1C-Related Disorders, including Timothy Syndrome, are ultra-rare conditions that affect how calcium moves in and out of cells — a process essential for the heart and brain.
A change in this gene can cause serious health problems across multiple organs, creating complex symptoms that often appear from birth or early childhood. These conditions can affect anyone, of any age, gender, or background.
Motivated by a need for connection, understanding, and progress, the Timothy Syndrome Alliance (TSA) was registered as a UK charity in 2019. Our work is international, supporting families around the world.
The problem
CACNA1C-Related Disorders are ultra-rare. Rarity creates low awareness among healthcare professionals and the public, meaning most people receive care based only on their symptoms.
Diagnosis is challenging — it takes an average of 9.7 years for someone in our community to receive a confirmed diagnosis, and misdiagnosis is common.
There is currently no approved treatment or cure. Research knowledge is fragmented, and information is scattered, making it hard to fully understand the condition.
Small patient numbers, complex symptoms, and low recognition make raising awareness, attracting support, and improving care a constant challenge.
Our solution
Clinical care is affected by inconsistent protocols, a lack of research, and fragmented data. We are building a central knowledge hub that brings families, researchers, and clinicians together to share information and drive progress.
By gathering robust data, supporting collaboration, and engaging our community, we can improve diagnosis, guide care, and accelerate research. This foundation positions CACNA1C-Related Disorders as a strategically aligned focus for advancing therapies and understanding.
Why this matters
The CACNA1C gene is critical for how hearts and brains function. Rare changes cause life-limiting disorders, but studying them also gives insight into more common conditions linked to this gene, including depression, bipolar disorder, and schizophrenia — conditions that affect millions worldwide.
Understanding these rare, high-impact cases can lead to breakthroughs in mental health and precision medicine, helping more people than just those in our ultra-rare community. Supporting this work matters to everyone.
Why we will succeed
We combine lived experience with scientific expertise. Led by affected families and guided by world-class researchers, we focus on what matters most: early diagnosis, real-world data, and collaborative research.
Our global community is growing, partnerships are strong, and our strategy is clear. With determination, connection, and the right support, we will drive discoveries, influence care, and accelerate progress toward treatments and a cure.
In October 2024, Timothy Syndrome Alliance became one of the first international patient organisations to join the Chan Zuckerberg Initiative Rare As One Network (Cycle 3). This five-year partnership will strengthen our capacity as a patient-led organisation and support our work bringing patients, researchers, and clinicians together to drive forward research into CACNA1C-Related Disorders and shape shared research priorities, accelerating progress for our community.
Short films
Our short films document the journeys of families navigating life with CACNA1C-Related Disorders and Timothy Syndrome. Through intimate storytelling and authentic voices, our films reveal the challenges, resilience and hope within our community.
Make a donation
CACNA1C variants present as a spectrum of cardiac, neurologic and developmental concerns – the earlier the screening and diagnosis, the better the healthcare outcomes.
With your help, every donation received will:
- support and connect the CACNA1C community
- improve CACNA1C diagnosis, outcomes, and quality of life
- support CACNA1C research initiatives
Whether setting up a regular payment to donate throughout the year, or making a one-off payment, your support is gratefully received – thank you.
See other ways that you can support us.