By Sophie Muir | Chair of Trustees
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
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