Lifesaving Global Rare Disease Patient Registry

Dear friends and supporters, 

Since our last report, Timothy Syndrome Alliance has continued its steady and intentional work, with a particular focus on strengthening the core behind our impact. This period has been about ensuring that the work we already do is properly supported, well connected, and positioned to deliver lasting value for our community and the wider field.

As part of this commitment, we are delighted to introduce Dr Amy Houseman, our Research and Public Engagement Officer, hosted by Cardiff University. Amy will help develop and oversee communications and engagement with our key international stakeholders, including researchers, clinicians, healthcare professionals, our CACNA1C community and the wider public.

Amy holds a PhD in Rare Disease Genetics from Cardiff University. During her doctoral research, she analysed DNA sequences from over 300 individuals with colorectal polyposis, a rare condition which, if left untreated, can develop into bowel cancer. Her work focused on identifying pathogenic variants in both known and novel genes to understand genetic predisposition to bowel cancer. This research led to the identification of a promising candidate gene that may play a role in inherited bowel cancer, representing an important step towards improved early diagnosis and more personalised care for at-risk patients.

Alongside her academic work, Amy brings extensive experience in rare disease engagement. She has volunteered with Unique RareChromo to develop accessible information leaflets for rare disorders, supported the European Journal of Human Genetics with engagement around newly published research, and organised numerous science engagement events for both public and research audiences. She also completed a placement year in genomics in Shanghai, further strengthening her international perspective.

In her role at TSA, Amy aims to make a meaningful difference for individuals and families affected by CACNA1C-Related Disorders including Timothy Syndrome and Long QT type 8. She will support communication and engagement activities, liaise closely with researchers, contribute to the development of our research portal, and help raise the profile of Timothy Syndrome and CACNA1C-Related Disorders globally. Her role will also help coordinate knowledge-sharing, collaboration, and patient-prioritised research, ensuring that research efforts remain connected, transparent, and responsive to community needs.

This appointment has been made possible through our Rare As One multi-year funding from the Chan Zuckerberg Initiative and represents a deliberate investment in the infrastructure needed to sustain and accelerate impact.

Looking ahead, we are preparing for an important milestone with the first data pull from the TSA CACNA1C Community Registry, which currently includes 109 participants.

If you are reading this and you or your family are impacted by CACNA1C, and you are an existing participant in the CACNA1C Community Registry, we kindly ask that you take a moment to check that all sections of your profile are complete. If you have not yet signed up, now would be an excellent time to do so. Each completed record strengthens the evidence base needed to better understand CACNA1C-Related Disorders and to guide future research priorities.

We are aiming to carry out preliminary data analysis and to share early findings at our Connect CACNA1C Global Network Conference, taking place in July 2026 in Cardiff. We have attached the conference flyer so you can view the details.

Thank you, as always, for being part of this journey with us and for the role you play in strengthening the work behind our shared impact.

Warm regards,

Sophie and Team TSA