Connect CACNA1C Global Network Conference

The Timothy Syndrome Alliance (TSA) is excited to host our Connect CACNA1C Global Network Conference in Cardiff on the 22-23 July 2026.

This event is open to everyone, whether you are living with a CACNA1C variant, a parent or carer, a researcher, clinician, advocate, or simply interested in learning more about CACNA1C-Related Disorders.

Individuals with CACNA1C-Related Disorders present with a range of multisystem clinical characteristics, including neurological issues (hypotonia, epilepsy, and seizures), neurodevelopmental challenges (intellectual disability, developmental delay, autism, and ADHD), and cardiac abnormalities, as well as syndactyly. This conference aims to bring together patients and researchers to create a patient-prioritised agenda for future research.

Conference agenda

Day 1 – Research and Clinical Focus (Wednesday 22nd July 2026)

This day will feature presentations from international leaders in CACNA1C research, complemented by talks selected from submitted abstracts and a dedicated poster session.

Day 2 – Patient and Family Priorities (Thursday 23rd July 2026)

Sessions will focus on lived experiences, patient and family voices, and opportunities for future research collaboration.

Register to attend

If you are interested in attending, please register below.

If submitting an abstract, please note the submission deadline is 16 February.

This is an in-person event, with online recordings available after the conference to ensure broader access for our global community. We look forward to seeing you in Cardiff!

Please get in touch at sophie@timothysyndrome.org or amy@timothysyndrome.org if you have any questions or if you need the registration forms in a different language.

Past events

Connect CACNA1C Global Network Conference 2025

On Saturday 20 September, we were delighted to bring together 70+ attendees from 19 countries for our global CACNA1C community online conference.  

Over the course of this four-and-a-half-hour programme, we had four expert presentations and two powerful stories of impact, all translated in real time thanks to the Wordly platform so attendees could listen and read in their preferred language.  A great Q&A session completed our conference, giving participants an opportunity to put questions to our speakers.

For anyone who missed it or would like to watch again, the programme speakers are listed below.  You can click on each name to access the recording, all of which include subtitles in 19 languages.

• TSA Scientific Advisory Board Updates by Dr Jack Underwood, WCAT Clinical Lecturer in Forensic Psychiatry at Cardiff University and Chair of the Scientific Advisory Board for the Timothy Syndrome Alliance
• Rareminds: Mental health and CACNA1C by Rebecca Hargreaves, Lead Counsellor CACNA1C at Rareminds, UK
• The importance of understanding communication in CACNA1C-related disorders by Dr Miya St. John, Researcher and Speech Pathologist at Murdoch’s Children’s Research Institute, Australia
• Genetics of CRDs and how this informs treatment options by Dr Rebecca Levy, Member of TSA Scientific Advisory Board and Neuroscientist at Stanford Medicine Children’s Health, USA
• Story of Impact: Linzie – she’s not one in a MILLION, she’s one in 8.2 BILLION by Jill Witt, Parent of Linzie, USA
• Diverse Effects of Timothy Syndrome Variants on Channel Function by Dr Ivy Dick, Associate Professor at School of Medicine, University of Maryland, USA
• Story of Impact: Rare but Loud: giving every voice a place to shine by Gemma Duncan, Parent of Noah

Following on from our Conference, we had a further live presentation in mid-October: 

• Cognition and CACNA1C by Dr Amy Arnsten, Albert E. Kent Professor of Neuroscience & Professor of Psychology, and Member of the Kavli Institute of Neuroscience, Yale University, USA.

Joined by 20+ attendees from 10 countries, Dr Arnsten spoke about new research findings of the importance of CACNA1C to the cognitive functioning of the prefrontal cortex. She outlined the numerous functions of the prefrontal cortex in humans, including language, working memory, abstract reasoning, social cognition, the executive functions, and top-down control, and talked about the narrow “inverted-U” relationship between CaV1.2 and prefrontal function.

She has found that CaV1.2 are essential to prefrontal function, but that excessive actions, as occurs with stress, impairs prefrontal function. This may explain why either loss- or gain-of-function mutations in CACNA1C impair prefrontal cortical abilities.

In late September, there was a Q&A with Dr Miya St John following on from her talk at our Conference. To protect the personal information of attendees, this Q&A session was not recorded. Instead, we have prepared a summary of the key questions and answers.

Download the 2025 conference programme

Connect CACNA1C Global Network Conference 2023

Watch the presentations: Connect CACNA1C Global Network Conference 2023 – video showcase

On 23 June 2023, we were thrilled to gather our global CACNA1C individuals, families, caregivers, researchers, scientists, healthcare professionals, advocates, and supporters, for this virtual language-accessible conference. By embracing this digital platform, we ensured that everyone, regardless of their geographic location, had the opportunity to join us.

We collectively shared current knowledge and ongoing studies, exchanged ideas, and fostered collaborations that will help shape the future of CACNA1C research, and improve diagnosis, and care.

Our programme featured presentations by members of our Scientific Advisory Board and guest speakers, all experts in their respective fields. In addition, we had two breakout discussion rooms and a dedicated Q&A session where speakers were available to address questions. Using the inclusive Wordly Translation app, participants engaged in real-time listening or reading along in their preferred language.

All 6 presentations from the day are now available with language subtitles (Brazilian Portuguese, Chinese, English, Finnish, French, German, Italian, Norwegian, Russian, Spanish and Turkish). While we cannot guarantee perfect translation, as that is not possible with AI, our approach in preparing these presentations has eliminated transcription errors that by definition contribute to ultimate translation errors.

We hope these will leave you feeling inspired and well-informed about the latest advancements in the field of CACNA1C. Together, we can turn hope into action, driving advocacy forward and creating a significant impact on the lives of those affected.

This conference was a product of collaboration and passion to understand CACNA1C.

For transparency, costs incurred are those to The Stanley Grundy Foundation in funding the Wordly.ai translation service, for which we are immensely grateful. Their generous support enabled this conference to be inclusive, accessible and global. Thanks to the generous contributions from individuals who support TSA’s mission, we have covered the post-production costs, ensuring that this conference will have a lasting impact.

A heartfelt thanks go to all speakers and Scientific Advisory Board members who gave their time so generously to share their latest knowledge and understanding of CACNA1C. Big thanks also go to NMHII, Cardiff University for hosting through their conference Zoom subscription.

To the CACNA1C families and individuals – you are not alone on this journey!

Download the 2023 conference programme