Timothy Syndrome Alliance (TSA)
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Timothy Syndrome Alliance (TSA)
@cacna1c.bsky.social
230 followers 430 following 29 posts
Improving diagnosis, treatment and care of those living with #CACNA1C related disorders including #TimothySyndrome and #LongQT8.
Registered charity no: 1185523. NGO Source certified 501(c)(3) equivalency determination. https://linktr.ee/cacna1c
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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Nov 11
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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
cacna1c.bsky.social
🫀 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
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.”
September 9, 2025 at 9:53 AM
Reposted by Timothy Syndrome Alliance (TSA)
cacna1c.bsky.social
Join the Conversation | Register Today
tinyurl.com/Connect-CACN...

#CACNA1C #TimothySyndrome #RareDisease #GenomicMedicine
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."
July 30, 2025 at 2:06 PM
cacna1c.bsky.social
Join the Conversation | Register Today
tinyurl.com/Connect-CACN...

#CACNA1C #TimothySyndrome #RareDisease #GenomicMedicine
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."
July 30, 2025 at 2:06 PM
cacna1c.bsky.social
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
June 18, 2025 at 6:16 PM
cacna1c.bsky.social
🧬 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
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/
June 12, 2025 at 5:00 PM
Reposted by Timothy Syndrome Alliance (TSA)
thevgccc.bsky.social
#CACNA1H
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
Purple background graphic with the heading “LOOKING FOR THE ONE IN A MILLION” in bold white text. The text explains that CACNA1H is a gene that is important for neurotransmission, or how neurons communicate with each other. Changes in CACNA1H are linked to disorders such as epilepsy, especially absence epilepsy, autism spectrum disorder, behavioural illnesses, primary aldosteronism, and congenital amyotrophy. The graphic encourages individuals or families with confirmed CACNA1H diagnoses to contact the organisation to join the CACNA1H community. On the right side is a whimsical illustration of a sparkly unicorn with a purple mane and green stars around it. Website at the bottom: thevgccc.org.
May 9, 2025 at 5:00 PM
Reposted by Timothy Syndrome Alliance (TSA)
thevgccc.bsky.social
#CACNA1G
Raising awareness and promoting collaboration across the #calcium #channelopathies. Find us at thevgccc.org
Purple background graphic with the heading “LOOKING FOR THE ONE IN A MILLION” in bold white text. The text explains that CACNA1G is a gene essential for communication between the brain and the rest of the body. Changes in this gene may cause intellectual disability, developmental delays, ataxia (uncoordinated movements), epilepsy, and eye conditions. The graphic encourages individuals or families with confirmed CACNA1G-related diagnoses to contact the organisation to join the CACNA1G community. On the right side is a whimsical illustration of a sparkly unicorn with a purple mane and green stars around it. Website at the bottom: thevgccc.org.
May 2, 2025 at 1:26 PM
cacna1c.bsky.social
🎯 @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
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.
April 14, 2025 at 7:13 PM
Reposted by Timothy Syndrome Alliance (TSA)
cacna1c.bsky.social
🟣 Today is Purple Day—a global day of epilepsy awareness!

CACNA1C gene = rare and complex epilepsies

#Epilepsy #CACNA1C #RareDiseases #PurpleDay
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
March 26, 2025 at 3:29 PM
Reposted by Timothy Syndrome Alliance (TSA)
cacna1c.bsky.social
🟣 Today is Purple Day—a global day of epilepsy awareness!

CACNA1C gene = rare and complex epilepsies

#Epilepsy #CACNA1C #RareDiseases #PurpleDay
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
March 26, 2025 at 12:51 PM
cacna1c.bsky.social
🟣 Today is Purple Day—a global day of epilepsy awareness!

CACNA1C gene = rare and complex epilepsies

#Epilepsy #CACNA1C #RareDiseases #PurpleDay
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
March 26, 2025 at 3:29 PM
cacna1c.bsky.social
🟣 Today is Purple Day—a global day of epilepsy awareness!

CACNA1C gene = rare and complex epilepsies

#Epilepsy #CACNA1C #RareDiseases #PurpleDay
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
March 26, 2025 at 12:51 PM
cacna1c.bsky.social
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
A group of five researchers, three women and two men, stand together in front of a modern building with a plaque on the wall. They are dressed in professional attire and are smiling at the camera. The image is framed with a white border, and below it, text announces a new research article on a website titled 'Functional assays and drug screening for ion channels.'
March 18, 2025 at 12:46 PM
Reposted by Timothy Syndrome Alliance (TSA)
thevgccc.bsky.social
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
March 6, 2025 at 3:11 PM
cacna1c.bsky.social
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
March 6, 2025 at 3:10 PM
Reposted by Timothy Syndrome Alliance (TSA)
thevgccc.bsky.social
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
A celebratory announcement graphic with a deep purple background. The text 'We are live now' is written in white cursive with two firework-like spark designs on either side. Below, in smaller white text, it says 'Check out our new website.' The image features a stylized browser window displaying the URL 'https://thevgccc.org.' Inside the browser window is the VGCCC logo, which includes a purple DNA helix between two black vertical bars, with the text 'VGCCC - Voltage-Gated Calcium Channel Collective' beneath it. The browser window has a green frame.
February 28, 2025 at 1:05 PM
cacna1c.bsky.social
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
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
February 17, 2025 at 7:04 PM
cacna1c.bsky.social
You voted - chapeau.

#CACNA1C #RareDisease #TimothySyndrome #LongQT8 #smileyCFA25 #charityfilmawards #TheSmileys #CFA25
February 11, 2025 at 5:54 PM
Reposted by Timothy Syndrome Alliance (TSA)
cacna1c.bsky.social
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
February 10, 2025 at 5:08 PM
cacna1c.bsky.social
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
February 10, 2025 at 5:08 PM
cacna1c.bsky.social
There is a global rare disease funding crisis.
#RareDiseaseDay
February 5, 2025 at 10:15 PM
cacna1c.bsky.social
Just a couple of clicks. Please view and vote here:
smileycharityfilmawards.com/films/connec...

#RareDiseases #RareDiseaseAdvocacy #CACNA1C #CharityFilmAwards #Research
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.'
January 22, 2025 at 3:00 PM
Reposted by Timothy Syndrome Alliance (TSA)
cacna1c.bsky.social
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...
Connections
In this film, a collaboration between the Timothy Syndrome Alliance (TSA) and Cardiff University, we explore the importance of connections between…
smileycharityfilmawards.com
January 8, 2025 at 10:51 PM
cacna1c.bsky.social
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...
Connections
In this film, a collaboration between the Timothy Syndrome Alliance (TSA) and Cardiff University, we explore the importance of connections between…
smileycharityfilmawards.com
January 8, 2025 at 10:51 PM
cacna1c.bsky.social
By sharing, liking and following our page you can help guide and signpost to help others find us.

#CACNA1C #TimothySyndrome #LongQT8 #RareDiseases
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
December 13, 2024 at 10:59 AM