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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

35 Posts236 Follower 428 Folgt

Gary Mirams @mirams.bsky.social · 2w ago

At great @cacna1c.bsky.social "Connect #CACNA1C" meeting, Cardiff Met amazing families and heard about their struggles to figure out what channel variants do and how to treat Variant-specific in-silico models promising to assess risk and propose treatments timothysyndrome.org/conference/

Connect CACNA1C Global Network Conference - Timothy Syndrome Alliance (TSA)

Join researchers, healthcare professionals and families from all over the world to advance the understanding of CACNA1C

timothysyndrome.org

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · 3mo ago

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 · 7mo ago

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · 8mo ago

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 · 8mo ago

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · 9mo ago

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · 11mo ago

🫀 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.”

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

🧬 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

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · last yr.

#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 · last yr.

#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.

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

🎯 @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 · last yr.

🟣 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 · last yr.

🟣 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 · last yr.

🟣 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 · last yr.

🟣 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 · last yr.

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.'

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · last yr.

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · last yr.

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

There is a global rare disease funding crisis. #RareDiseaseDay

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · 2y ago

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.'

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · 2y ago

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

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · 2y ago

Connections

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

smileycharityfilmawards.com