🫀 New research from the Zafeiriou Lab! Lab-grown heart model with nerve connections helping to understand CACNA1C-Related Disorders inc Timothy Syndrome better. 👉 Read more: timothysyndrome.org/research/inv... #CACNA1C #TimothySyndrome #RareDiseaseResearch @zafeirioulab.bsky.social

Join the Conversation | Register Today tinyurl.com/Connect-CACN... #CACNA1C #TimothySyndrome #RareDisease #GenomicMedicine

Join the Conversation | Register Today tinyurl.com/Connect-CACN... #CACNA1C #TimothySyndrome #RareDisease #GenomicMedicine

More smiles to share with you; this time, Andrew Glazer and Richard Dolder from the Glazer Lab at Vanderbilt University Medical Center. New blog: timothysyndrome.org/research/det... #CACNA1C #RareDisease #Research @amglazer.bsky.social @vanderbilt.edu

🧬 FOR OUR RARE COMMUNITY: Updates That Matter 🧬 TSA now has a quarterly newsletter! Catch up on what we’re funding, who we’re working with, event dates & support news. 📬 Next issue coming soon → timothysyndrome.org/newsletter #RareDisease #CACNA1C

#CACNA1H Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org

#CACNA1G Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org

🎯 @jfgunderwood.bsky.social (Cardiff Uni) has been Highly Commended in the national #PPIE Awards by Rare Disease Research UK for his work embedding lived experience into #CACNA1C research. 💙 Thank you to the families shaping this work. 🔗 rd-research.org.uk/neuroscience... #RareDiseases

🟣 Today is Purple Day—a global day of epilepsy awareness! CACNA1C gene = rare and complex epilepsies #Epilepsy #CACNA1C #RareDiseases #PurpleDay

🟣 Today is Purple Day—a global day of epilepsy awareness! CACNA1C gene = rare and complex epilepsies #Epilepsy #CACNA1C #RareDiseases #PurpleDay

🟣 Today is Purple Day—a global day of epilepsy awareness! CACNA1C gene = rare and complex epilepsies #Epilepsy #CACNA1C #RareDiseases #PurpleDay

🟣 Today is Purple Day—a global day of epilepsy awareness! CACNA1C gene = rare and complex epilepsies #Epilepsy #CACNA1C #RareDiseases #PurpleDay

New blog: Functional assays and drug screening for ion channels timothysyndrome.org/functional-a... Smiling faces from the left in the photo: Prof Jamie Vandenberg, Ms Joanne Ma, Dr Chek-Ying Tan, Miss Evie Shen, Dr Chai-Ann Ng. Victor Chang Cardiac Research Institute @victorchang.edu.au

European Calcium Channel Conference 2025 Early registration and abstract submission are still open until March 10, 2025! For additional information, please visit the meeting website: calciumchannel.eu and for registration: calciumchannel.eu/registration... #calcium #channelopathies #ionchannels

European Calcium Channel Conference 2025 Early registration and abstract submission are still open until March 10, 2025! For additional information, please visit the meeting website: calciumchannel.eu and for registration: calciumchannel.eu/registration... #calcium #channelopathies #ionchannels

Website launch Global network, amplifying the patient voice, driving research and treatment. This is a collaboration powered by passion, determination, and the pursuit of answers. #calcium #channelopathies #research #community #ionchannels #RareDiseaseDay #equity #raredisease

If you know #CACNA1C then you know that #cardiac screening is a must with any CACNA1C rare variant finding? Would you be surprised if I shared that this isn't being carried out as standard procedure? 😱 #RareDisease

You voted - chapeau. #CACNA1C #RareDisease #TimothySyndrome #LongQT8 #smileyCFA25 #charityfilmawards #TheSmileys #CFA25

International Epilepsy Day 💜 Did you know that CACNA1C has been classified as a green (diagnostic evidence level) gene on the Early Onset or Syndromic Epilepsy panels since 2022? These panels are part of the diagnostic pathway to aid in genetic testing. #CACNA1C #EpilepsyAwareness #RareDisease

International Epilepsy Day 💜 Did you know that CACNA1C has been classified as a green (diagnostic evidence level) gene on the Early Onset or Syndromic Epilepsy panels since 2022? These panels are part of the diagnostic pathway to aid in genetic testing. #CACNA1C #EpilepsyAwareness #RareDisease

There is a global rare disease funding crisis. #RareDiseaseDay

Just a couple of clicks. Please view and vote here: smileycharityfilmawards.com/films/connec... #RareDiseases #RareDiseaseAdvocacy #CACNA1C #CharityFilmAwards #Research

Rare disease research thrives on connections. We need your help reaching the judging stage. Shortlisting depends on votes, and as a rare disease, our reach is small. Can you help by voting? (and watching obvs) smileycharityfilmawards.com/films/connec...

Rare disease research thrives on connections. We need your help reaching the judging stage. Shortlisting depends on votes, and as a rare disease, our reach is small. Can you help by voting? (and watching obvs) smileycharityfilmawards.com/films/connec...

By sharing, liking and following our page you can help guide and signpost to help others find us. #CACNA1C #TimothySyndrome #LongQT8 #RareDiseases

We have an online CACNA1C global support group - a community of people with common experiences and concerns who provide emotional and moral support for one another. Please reach out to us if you are impacted by CACNA1C. #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether

Meet the Trustees: "I am a final-year Podiatry student graduating in 2025, passionate about improving health equity, advocating for patients, and continuously advancing evidence-based practice." #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether

Meet the Trustees: "Hi everybody! My name is Sue Bresnahan. I am a paediatric nurse & mom of three great kids! I am excited to be a part of this incredible community. I have learned so much already, I can't wait to see what the future holds!" #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether

Meet the Trustees: "Hi all, I'm Gemma (: I am a wife to my amazing husband Paul & a mother to my awesome 13 year old son Noah. Being a part of this group has been a huge part of my life. I feel very lucky to be able to work alongside such incredible individuals." #CACNA1C #TimothySyndrome #LongQT8

“He's had regular speech therapy since about 3 years old. I was his translator, and still am most days.” 6yo Parker has a #CACNA1C -related disorder. Rare #speech conditions are commonly found in children who have #genetic disorders. #TimothySyndrome #LongQT8 #RareDisease

Meet the Trustees: Galina "An artist-turned-researcher, my current thing is running art projects for young adult caregivers and evaluating their well-being impact, as part of a doctoral study with Warwick Uni." #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether

Meet Trustee Meg "I'm a lifelong learning enthusiast, evidenced by my obsession with podcasts and my occupation as a Learning & Development Consultant, alongside my role of Trustee for TSA I'm passionate about health and empowerment and believe community is key." #CACNA1C #TimothySyndrome #LongQT8

Meet our trustees: Nick "Father of 3 x boys/vikings, I look a bit like a Polar bear in an overcoat and spend most of my weekdays travelling for work or dreaming up the next unlikely hustle. My weekends are spent travelling for the kids" #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether

Let's meet our Trustees! "I'm Sophie and mum to 3 boys - middle one Calvin (17yo) has a CACNA1C variant. I'm a seeker of knowledge and ask questions when told something can't be done. Often found in the countryside walking our dogs Toast and Bean." #CACNA1C #TimothySyndrome #LongQT8

On the 1st day of Christmas, I joined the registry.. The CACNA1C Community Registry currently has 80 participants enrolled. Wow, isn't that amazing? Please help us continue to grow as a community by signposting our posts. #CACNA1C #TimothySyndrome #LongQT8 #StrongerTogether

What if a compelling case for continued investment in #RareDisease #research and #support was told through the medium of film? Finalists are decided by public vote. Please support by voting: smileycharityfilmawards.com/films/connec... and share with your network connections. 🧬🦓 #RareDiseases

The Voltage-Gated #Calcium Channel Collective - a #CACNA1A, #CACNA1B, #CACNA1C, #CACNA1D, #CACNA1E, #CACNA1F, #CACNA1G, #CACNA1H, #CACNA1I & #CACNA1S collaboration alongside researchers and clinicians raising awareness, accelerating knowledge, signposting and empowering our communities. #IonChannels

1/2 Hi everyone! We're here to build connections with academics, clinical teams, and researchers to strengthen our network on behalf of our global CACNA1C community. #CACNA1C #TimothySyndrome #LongQT8 #RareDisease #Awareness #Research