It’s going to be such a great conference! Please submit your abstracts ⬇️🧬
#CACNA1C #neurodevelopmental #genomics #TimothySyndrome #DDD
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#CACNA1C
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Promotional graphic for the “Connect CACNA1C Global Network Conference.” Navy and orange design with the headline “Bringing together the global CACNA1C community.” Text explains the conference unites researchers and families to share discoveries, insights and hope in CACNA1C research. Calls to action read “Register your interest in attending” and “Abstract submissions open now,” with the abstract deadline of 16 February 2026 and a website link to timothysyndrome.org/conference. Event details show 22–23 July 2026, Cardiff, UK, as an in-person event with online attendance available. A message invites people living with a CACNA1C variant, parents or carers, researchers, clinicians and advocates to attend. Includes network and DNA icons and the Timothy Syndrome Alliance (TSA) CACNA1C logo.
ABSTRACT SUBMISSION OPEN! #CACNA1C
Join us at the Connect CACNA1C Global Network Conference! 🧬22nd-23rd July 2026 in Cardiff, UK
Click here for registration/abstract submission:
🔗 timothysyndrome.org/conference/
#TimothySyndrome #channelopathies #genomics
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A laptop sits on a wooden table, displaying a Timothy Syndrome Alliance (TSA) graphic on the screen. The graphic shows a grid of photos featuring children, a dog, and babies around the TSA logo in the centre. Beneath the images is the website address: www.timothysyndrome.org A hand rests on the laptop keyboard and a mug sits beside the computer.
If you missed our September conference, the full content is now available on our website — short, focused videos covering key topics in CACNA1C-Related Disorders, each with 19 human-checked subtitle languages to ensure accuracy and global accessibility.
#CACNA1C #RareDisease #Genetics #RareDisease
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Why communication is important full talk here: youtu.be/rzF1USN2ekg
Support evidence-based research and help families gain answers: give.rarevillage.org/campaign/697...
#GivingTuesday #SupportScience #SpeechResearch #LanguageResearch #RareDiseaseResearch #CACNA1C
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New expert-led guidance clarifies terminology for pathogenic CACNA1C variants, defining Timothy Syndrome and introducing CACNA1C-Related Disorders (CRDs). Read the preprint: www.researchsquare.com/article/rs-8...
#CACNA1C #TimothySyndrome #RareDisease
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The awareness days keep on coming, with today being #CACNA1C Awareness Day.
Read Unique's quick read quide to CACNA1C on our website at rarechromo.org/disorder-gui... - you'll find it under the Single Gene Disorder Guides section.
#RareDisease @cacna1c.bsky.social
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Fluorescent microscope image showing a lab-grown heart muscle model with nerve connections. Red highlights heart muscle tissue and green highlights nerve fibres. Below, white text on a black background reads: “New research blog on our website: ‘Investigating Timothy Syndrome in a new innervated heart muscle model’ – Zafeiriou Lab.”
🫀 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
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Thrilled to share our new paper @jaccjournals.bsky.social EP
For the first time, we show that a #CACNA1C variant (p.Arg518Cys) can cause arrhythmogenic cardiomyopathy (ACM), evolving from childhood long-QT syndrome type 8 (#LQT8) to adult-onset #ACM.
www.jacc.org/doi/10.1016/...
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Flyer for "CONNECT 2025: Global CACNA1C Conference" organised by the Timothy Syndrome Alliance. The event will take place on Saturday, 20 September 2025, from 3 PM to 7:30 PM BST. The conference emphasises knowledge, collaboration, and community, and is designed to be free, online, and language-inclusive for international access. The flyer features the TSA (Timothy Syndrome Alliance) logo, and a photo of a smiling baby with a nasal feeding tube wrapped in a soft blanket. Text at the bottom highlights: "Championing collaboration in CACNA1C research and care."
Join the Conversation | Register Today
tinyurl.com/Connect-CACN...
#CACNA1C #TimothySyndrome #RareDisease #GenomicMedicine
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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
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Graphic promoting the Timothy Syndrome Alliance newsletter. The background is light blue with the headline 'FOR OUR RARE COMMUNITY: Updates That Matter' in bold black text. Below is a laptop screen displaying a newsletter titled 'Springing into Action!' featuring a grid of smiling children and families, along with the TSA logo. At the bottom is the website link: https://timothysyndrome.org/newsletter/
🧬 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
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Quote from Dr Jack Underwood, Clinical Research Fellow at NMHII, Cardiff University and Chair of the TSA Scientific Advisory Board. He reflects on how community involvement has driven global conversations, inspired new ideas through casual comments, and led to real-world impact in research and clinical practice—especially through small wins and meaningful progress for a rare disease community fighting to be heard. White text on a red background with quotation mark icon at the top.
🎯 @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
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A purple digital graphic features a unicorn with a pink mane, gold horn, and a happy expression, surrounded by green stars. The text at the top says, "LOOKING FOR THE ONE IN A MILLION." Below, it explains that the CACNA1C gene helps control calcium flow in the heart and brain. Changes in this gene are linked to conditions like autism, ADHD, seizures, low muscle tone, immune problems, and heart issues, including sudden arrhythmia. The message invites families and individuals with confirmed CACNA1C gene changes to join the CACNA1C community and provides a website for contact: thevgccc.org.
#CACNA1C
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
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A digital graphic with a purple gradient background. At the top, there is a large white quotation mark symbol. Below, centred white text reads: "Both loss-of-function and gain-of-function mutations in CACNA1C have been linked to epilepsy, yet the precise mechanisms by which they contribute to seizure activity remain unclear. I'm using Drosophila melanogaster to try to comprehend exactly how disruptions in CACNA1C affect neuronal excitability and network function, and unravel its role in many neurological disorders including epilepsy." Below the quote, the attribution is given as: Sophie Smith, PhD student School of Physiology, Pharmacology and Neuroscience University of Bristol
🟣 Today is Purple Day—a global day of epilepsy awareness!
CACNA1C gene = rare and complex epilepsies
#Epilepsy #CACNA1C #RareDiseases #PurpleDay
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A digital graphic with a purple gradient background. At the top, there is a large white quotation mark symbol. Below, centered white text reads: "Using fruit flies, we can model seizure-related behaviors linked to CACNA1C disorders, helping us understand how mutations in this gene contribute to epilepsy. By studying these flies, we can investigate the underlying mechanisms and test potential therapeutic strategies in a rapid and cost-effective way." Below the quote, the attribution is given as: Sophie Smith, PhD student School of Physiology, Pharmacology and Neuroscience University of Bristol
🟣 Today is Purple Day—a global day of epilepsy awareness!
CACNA1C gene = rare and complex epilepsies
#Epilepsy #CACNA1C #RareDiseases #PurpleDay
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In a red outlined box is the text taken from PanelApp's CACNA1C calcium voltage-gated channel subunit alpha1 C website confirming Green CACNA1C in Long QT syndrome Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 3.10 Latest signed off version: v3.9 (30 Oct 2024) Component of the following Super Panels: Cardiac arrhythmias Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood
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
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You voted - chapeau.
#CACNA1C #RareDisease #TimothySyndrome #LongQT8 #smileyCFA25 #charityfilmawards #TheSmileys #CFA25
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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
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Black-and-white photo of a surprised woman with her hands on her cheeks, accompanied by bold yellow text: 'Have you VOTED? only 6 days left.' Below, a link is provided: 'https://smileycharityfilmawards.com/films/connections.'
Just a couple of clicks. Please view and vote here:
smileycharityfilmawards.com/films/connec...
#RareDiseases #RareDiseaseAdvocacy #CACNA1C #CharityFilmAwards #Research
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The image is of crisp white snow with footprints leaving the logo of Timothy Syndrome Alliance in their wake. Text reads You can guide and signpost to show them the way. Please help us find others impacted by a CACNA1C diagnosis by helping them find us. #CACNA1C
By sharing, liking and following our page you can help guide and signpost to help others find us.
#CACNA1C #TimothySyndrome #LongQT8 #RareDiseases
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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
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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
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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
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Montage of trustee Gemma as a festive elf with a striped red and white gift in hand on a festive snow background of baubles and spruce.
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
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“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
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Montage of trustee Galina as a festive elf with a striped red and white gift in hand on a festive snow background of baubles and spruce.
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
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Montage of trustee Meg as a festive elf with a striped red and white gift in hand on a festive snow background of baubles and spruce.
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
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Montage of trustee Nick as a festive elf with a striped red and white gift in hand on a festive snow background of baubles and spruce.
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
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Montage of trustee Sophie as a Christmas elf with a striped red and white gift in hand on a festive snow background of baubles and spruce.
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
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