iiinova — where your digital self keeps evolving

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 19/05/2026

We are launching a new study looking at #speech and #language in individuals with #CACNA1C gene changes. If you are interested in participating, have CACNA1C patients or have questions, please email the study team at geneticsofspeech@mcri.edu.au

Recruitment flyer from the Translational Centre for Speech Disorders at Murdoch Children's Research Institute, co-branded with Timothy Syndrome Alliance. Title: "Speech and language in individuals with CACNA1C-related disorders including Timothy syndrome and long QT type 8 — an international study." The study seeks individuals aged 6 months and older with a confirmed CACNA1C variant, whether speaking or non-speaking. Participation involves surveys on communication, health and medical history, plus an optional one-hour Zoom or in-person session with a speech pathologist. Surveys are available in English, French, Dutch, German, Spanish, Portuguese, Italian, Chinese, and Polish. Contact: geneticsofspeech@mcri.edu.au. Approved by the Royal Children's Hospital Human Research Ethics Committee (Reference 37353). Photo shows a group of smiling children outdoors.

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 08/01/2026

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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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 03/12/2025

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

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 02/12/2025

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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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 19/11/2025

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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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 09/09/2025

🫀 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.”

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Reposted by Timothy Syndrome Alliance (TSA)

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 30/07/2025

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

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 18/06/2025

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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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 12/06/2025

🧬 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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Reposted by Timothy Syndrome Alliance (TSA)

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · 09/05/2025

#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.

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · 02/05/2025

Reposted by Timothy Syndrome Alliance (TSA)

#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.

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 14/04/2025

🎯 @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.

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 26/03/2025

Reposted by Timothy Syndrome Alliance (TSA)

🟣 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

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 26/03/2025

Reposted by Timothy Syndrome Alliance (TSA)

🟣 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

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 26/03/2025

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

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 26/03/2025

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

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 18/03/2025

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.'

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Reposted by Timothy Syndrome Alliance (TSA)

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · 06/03/2025

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

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 06/03/2025

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Reposted by Timothy Syndrome Alliance (TSA)

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · 28/02/2025

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

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 17/02/2025

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

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Reposted by Timothy Syndrome Alliance (TSA)

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 10/02/2025

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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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 10/02/2025

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 22/01/2025

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.'

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Reposted by Timothy Syndrome Alliance (TSA)

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 08/01/2025

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...

smileycharityfilmawards.com

Connections

In this film, a collaboration between the Timothy Syndrome Alliance (TSA) and Cardiff University, we explore the importance of connections between…

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 08/01/2025

smileycharityfilmawards.com

Connections

In this film, a collaboration between the Timothy Syndrome Alliance (TSA) and Cardiff University, we explore the importance of connections between…

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 13/12/2024

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

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 12/12/2024

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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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 11/12/2024

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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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 10/12/2024

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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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 09/12/2024

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

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.

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 06/12/2024

“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

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 05/12/2024

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

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.

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 04/12/2024

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

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.

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 03/12/2024

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

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.

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 02/12/2024

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

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.

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 01/12/2024

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

A festive red-on-white design featuring snowflakes, trees and baubles shares that our CACNA1C Patient Registry has 80 participants enrolled.

A festive red sleigh on a snow background with the text All our posts have the hashtag #CACNA1C to help widen our reach. You help signpost our community by liking, interacting and sharing our posts.

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 21/11/2024

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

From a bright yellow background shouts the text "Research & rare diseases deserve the spotlight!" encouraging you to leave Bluesky momentarily and Vote for the film 'Connections' on the Smiley Charity Film Awards website.

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Reposted by Timothy Syndrome Alliance (TSA)

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · 18/11/2024

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

What is the VGCCC?
Voltage-Gated Calcium Channels act like doors on cells, opening when there's an electrical signal. They let calcium ions* flow in, helping with muscle movement, neurotransmission, and other important body functions.
The genes that represent the Voltage-Gated Calcium Channels are CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA1H, CACNA1I and CACNA1S.
In the same way the channels work together like a team to ensure proper cell communication and function, we are collaborating as patient gene groups with a network of researchers to raise awareness and accelerate knowledge for all our gene groups. We are the Voltage-Gated Calcium Channel Collective.

* Calcium ions are positively charged particles of calcium, an essential mineral found in the body.

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · 11/11/2024

2/2 For those who may not yet know: CACNA1C related disorders -> are rare genetic disorders -> affect an unknown number worldwide -> can result in life-threatening health problems -> are often misdiagnosed -> currently have no cure #CACNA1C #TimothySyndrome #LongQT8 #RareDisease