Timothy Syndrome Alliance (TSA)'s Avatar

Timothy Syndrome Alliance (TSA)

@cacna1c.bsky.social

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

219 Followers  |  424 Following  |  28 Posts  |  Joined: 10.11.2024  |  1.7722

Latest posts by cacna1c.bsky.social on Bluesky

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."

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

30.07.2025 14:06 — 👍 0    🔁 2    💬 0    📌 0
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."

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

30.07.2025 14:06 — 👍 0    🔁 2    💬 0    📌 0
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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

18.06.2025 18:16 — 👍 3    🔁 1    💬 0    📌 0
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/

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

12.06.2025 17:00 — 👍 0    🔁 0    💬 0    📌 0
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.

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.

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

09.05.2025 17:00 — 👍 2    🔁 1    💬 0    📌 0
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.

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.

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

02.05.2025 13:26 — 👍 3    🔁 3    💬 0    📌 0
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.

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

14.04.2025 19:13 — 👍 1    🔁 0    💬 0    📌 0
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

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

26.03.2025 15:29 — 👍 1    🔁 1    💬 0    📌 0
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

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

26.03.2025 12:51 — 👍 2    🔁 1    💬 0    📌 0
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

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

26.03.2025 15:29 — 👍 1    🔁 1    💬 0    📌 0
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

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

26.03.2025 12:51 — 👍 2    🔁 1    💬 0    📌 0
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.'

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.'

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

18.03.2025 12:46 — 👍 2    🔁 0    💬 0    📌 1
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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

06.03.2025 15:11 — 👍 6    🔁 6    💬 0    📌 0
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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

06.03.2025 15:10 — 👍 0    🔁 0    💬 0    📌 0
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.

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.

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

28.02.2025 13:05 — 👍 6    🔁 5    💬 1    📌 0
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

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

17.02.2025 19:04 — 👍 0    🔁 0    💬 0    📌 0
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You voted - chapeau.

#CACNA1C #RareDisease #TimothySyndrome #LongQT8 #smileyCFA25 #charityfilmawards #TheSmileys #CFA25

11.02.2025 17:54 — 👍 1    🔁 0    💬 0    📌 0
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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

10.02.2025 17:08 — 👍 0    🔁 2    💬 0    📌 0
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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

10.02.2025 17:08 — 👍 0    🔁 2    💬 0    📌 0
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There is a global rare disease funding crisis.
#RareDiseaseDay

05.02.2025 22:15 — 👍 0    🔁 1    💬 0    📌 0
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.'

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

22.01.2025 15:00 — 👍 0    🔁 0    💬 0    📌 0
Preview
Connections In this film, a collaboration between the Timothy Syndrome Alliance (TSA) and Cardiff University, we explore the importance of connections between…

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...

08.01.2025 22:51 — 👍 2    🔁 2    💬 0    📌 1
Preview
Connections In this film, a collaboration between the Timothy Syndrome Alliance (TSA) and Cardiff University, we explore the importance of connections between…

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...

08.01.2025 22:51 — 👍 2    🔁 2    💬 0    📌 1
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

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

13.12.2024 10:59 — 👍 2    🔁 1    💬 0    📌 0
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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

12.12.2024 21:02 — 👍 0    🔁 0    💬 0    📌 0
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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

11.12.2024 19:39 — 👍 0    🔁 0    💬 0    📌 0
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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

10.12.2024 21:14 — 👍 0    🔁 0    💬 0    📌 0
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.

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

09.12.2024 13:29 — 👍 0    🔁 0    💬 0    📌 0
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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

06.12.2024 13:08 — 👍 1    🔁 0    💬 0    📌 0
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.

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

05.12.2024 14:30 — 👍 1    🔁 0    💬 0    📌 0

@cacna1c is following 20 prominent accounts