Great to be able to share with you the latest updates on the global CACNA1C Community Registryand our work at Timothy Syndrome Alliance (TSA).
Our ‘Connect CACNA1C Global Network Conference’ was amazing!
Registered attendees totalled 70 in number and were a great mix of families and individuals impacted by a CACNA1C diagnosis, healthcare professionals, researchers and scientists. At any one time, there were 48 people online - 4.5 hours is after all a long commitment. For those who couldn’t join due to other commitments, time zone differences, having to leave part way through and for those wanting to watch again we recorded all six talks from the conference. These talks were:
The Impact of CACNA1C Real-World Data: CCR Registry Update and Vision - Sophie Muir & Joshua Henderson (Pulse Infoframe)
Differences in the expression of CACNA1C between the brain and the heart - Dr Nicola Hall (Department of Psychiatry, Oxford University)
Using patient-derived stem cells to investigate CACNA1C-related disorders - Dr Gemma Wilkinson (NMHII, Cardiff University)
Multiple beta cell-independent mechanisms drive hypoglycaemia in Timothy syndrome - Dr Maiko Matsui (Cardiovascular Research Institute, Weill Cornell Medicine)
Heart and Beyond Heart: clinical spectrum of CACNA1C variants, literature revision - Dr Anwar Baban (Bambino Gesù Children Hospital and Research Institute, IRCCS, Rome)
Predicting functional effects of genetic variants in calcium and sodium channels such as CACNA1C - Dr Henrike Heyne (Hasso-Plattner-Institute, Potsdam, Germany and Mount Sinai School of Medicine, NY)
Using an AI language translation service our recordings are language-accessible ensuring that everyone, regardless of their geographic location, has the opportunity to watch. As many of the talks included work that has yet to be published these recordings are to be hosted on an unlisted site for the first 12 months, if you’d like access to view the talks please do email me at sophie@timothysyndrome.org.
All the best
Sophie
We are excited to share with you news of our online conference on 23 June 2023, 3pm - 7.30pm BST
Our virtual language-accessible ‘Connect CACNA1C Global Network Conference’, kindly hosted by Cardiff University’s Neuroscience & Mental Health Innovation Institute serves as an opportunity for CACNA1C individuals, families, caregivers, researchers, scientists, healthcare professionals, advocates, and supporters to come together. By collectively sharing current knowledge, and ongoing studies, exchanging ideas, and fostering collaborations we can help shape the future of CACNA1C research, improved diagnosis, and care. Our community is worldwide so by embracing this digital platform and using an AI language translation service, we ensure that everyone, regardless of their geographic location, has the opportunity to join.
Our programme features presentations by members of our Scientific Advisory Board and guest speakers, all experts in their respective fields. In addition, there will be two breakout discussion rooms and a dedicated Q&A session where speakers will be readily available to address questions.
Our first talk of the conference will be from myself and Joshua Henderson and it's all about the registry. Joshua’s expertise is in building relationships and fostering collaboration across diverse groups of stakeholders, with a specific focus on supporting underrepresented populations and advancing the development of treatments for underserved diseases. He is currently the Head of Rare Diseases at Pulse Infoframe, responsible for partnering with patient advocacy groups and biopharma companies globally to streamline fit-for-purpose, regulatory-grade real-world data. The talk titled ‘The Impact of CACNA1C Real-World Data: CCR Registry Update and Vision’ will summarise some key findings from the registry.
I have attached the conference programme in which you will find the full agenda, bios, time zones to help you plan and instructions on how to use Wordly AI Translation. To register to attend just click on the link on the bottom of the front page of the programme.
Hope to see you there.
All the best
Sophie
The CACNA1C Community Registry continues to welcome and receive participants worldwide with identified CACNA1C gene changes.
People are unique genetically and even though we are all the same gene group (ie. CACNA1C) there are different genetic variants. Genetic variants are not the same, they don't necessarily act in the same way and they might have different mechanisms in terms of how they are treated. Numbers matter when it comes to rare disease conditions. Everyone needs to be counted.
Raising awareness of CACNA1C and our registry is crucial - here is a picture from the end of January in the Poster Zone at the two day Festival of Genomics & Biodata, the largest genomics event in the UK and in Europe which boasts approximately 7,000 attendees.
The CACNA1C Community registry provides the best chance of having real influence on research and the first annual platform $10,000 invoice is anticipated at the end of the month. Your support enables this project to be sustainable so thank you again for joining us on this journey.
Lots of projects advancing our mission in the pipeline – 2023 is going to be big for CACNA1C!
All the best
Sophie
The CACNA1C Community Registry has been open for worldwide recruitment since our last update in June. We are pleased to report we have had a steady flow of registrations from individuals with identified CACNA1C variants and from family members completing on behalf of loved ones.
Whilst the remote participation model allows people to enrol from almost anywhere in the world wouldn’t it would be great to be able to offer the medical questionnaire in languages other than English to make this even more accessible?
We continue to increase the visibility of CACNA1C, you may have seen our recent Awareness Day and signposting on our social media channels, so the lives of families and individuals navigating the many health concerns caused by variations in this gene may be improved through research and clinical trials.
We know as a community that we are stronger when we work together yet we face many challenges and decisions sometimes favour the relatively more common rare conditions on which there is generally more knowledge and awareness. This is why your help raising awareness of this registry is so very much appreciated - the more participants in the registry, the more data there is for researchers to study variations in this gene resulting in a better understanding.
Thank you once again for your continued support.
(image taken from our #CACNA1C Awareness Day campaign on the 1st October)
Exciting news! The CACNA1C Community Registry has opened for worldwide recruitment.
Families and individuals living with a CACNA1C variation face many difficulties, including having to educate many in their healthcare circles about the condition. They also have limited treatment options.
Participating in the CACNA1C registry will help those affected by a variation in this gene in many ways:
TSA is now actively raising awareness of this patient registry, focusing on healthcare professionals involved with medical diagnosis such as geneticists, paediatricians and cardiologists so that they may signpost anyone with this gene change towards the registry.
Could you also help raise awareness of the registry? - the more participants in the registry, the more data there is for researchers to study.
Thank you for your continued support.
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