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

🫀 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.”

Reposted by Timothy Syndrome Alliance (TSA)

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Jul 30

Join the Conversation | Register Today
tinyurl.com/Connect-CACN...

#CACNA1C #TimothySyndrome #RareDisease #GenomicMedicine

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Jul 30

Join the Conversation | Register Today
tinyurl.com/Connect-CACN...

#CACNA1C #TimothySyndrome #RareDisease #GenomicMedicine

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Jun 18

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 · Jun 12

🧬 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

Reposted by Timothy Syndrome Alliance (TSA)

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · May 9

#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.

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Reposted by Timothy Syndrome Alliance (TSA)

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · May 2

#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 · Apr 14

🎯 @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.

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Reposted by Timothy Syndrome Alliance (TSA)

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Mar 26

🟣 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

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Reposted by Timothy Syndrome Alliance (TSA)

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Mar 26

🟣 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

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Mar 26

🟣 Today is Purple Day—a global day of epilepsy awareness!

CACNA1C gene = rare and complex epilepsies

#Epilepsy #CACNA1C #RareDiseases #PurpleDay

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Mar 26

🟣 Today is Purple Day—a global day of epilepsy awareness!

CACNA1C gene = rare and complex epilepsies

#Epilepsy #CACNA1C #RareDiseases #PurpleDay

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Mar 18

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 · Mar 6

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 · Mar 6

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

Reposted by Timothy Syndrome Alliance (TSA)

The Voltage-Gated Calcium Channel Collective @thevgccc.bsky.social · Feb 28

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 · Feb 17

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 · Feb 11

You voted - chapeau.

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

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Reposted by Timothy Syndrome Alliance (TSA)

Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Feb 10

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 · Feb 10

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 · Feb 5

There is a global rare disease funding crisis.
#RareDiseaseDay

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Jan 22

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.'

Reposted by Timothy Syndrome Alliance (TSA)

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

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

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

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

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Timothy Syndrome Alliance (TSA) @cacna1c.bsky.social · Dec 13

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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