Chai Ann Ng

Additionally, the functional evidence for 275 SCN5A variants from our recent SCN5A automated patch-clamp study is now accessible in ClinVar.

Today is the deadline to submit your abstract.

Thanks to the British Society for Genetic Medicine for the nice video. It will be midnight in Sydney, so I will have plenty of coffee to stay awake.

Thank you @amglazer.bsky.social for the exciting opportunity to collaborate! Since then, we've provided functional evidence supporting the VUS reclassification in children with abnormal sodium #ionchannel function at Sydney Children’s Hospital.

🗓️Abstract Deadline Extended
to December 1st, 2025!
#VariantEffect26
ℹ️https://www.mss2026.org

#HGSA2025 was a great meeting; I presented my research in the Top Orals session to colleagues from clinical diagnostic labs. We must collaborate to improve the genetic diagnosis of channelopathies, especially for missense variants.

Spreading the word to cardiologists at CSANZ meeting on how functional data can help with variant reclassification in cardiac channelopathies and sometimes in risk prediction as well. Hopefully more of them are aware of our research.

I hope our paper will inspire other diagnostic testing companies to use validated functional data for reclassifying their VUS.

Link to the paper (www.ahajournals.org/doi/epub/10....). Up to 41 VUS can be reclassified to provide diagnostic test results for 83 patients. Furthermore, up to 201 VUS now have functional evidence of pathogenicity, which will allow them to be reclassified in the future for up to 550 patients.

We have previously demonstrated that functional data can inform us about the risk associated with KCNH2-LQTS (www.ahajournals.org/doi/10.1161/...). By using the same functional data, we asked what is the utility when applied in clinical setting by collaborate with Invitae Corp to reanalyse their VUS

Leaving Tokyo after presenting at Membrane Physiology Symposium Japan. Met new colleagues and discussed potential collaboration :) Thanks to @naniontech.bsky.social for the invitation.

If you're in Japan and want to participate, here's the registration link from @naniontech.bsky.social (hopefully there's still space available). www.nanion.de/membrane-phy...

Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome Background Brugada Syndrome (BrS) is an inherited arrhythmia disorder that causes an elevated risk of sudden cardiac death. Approximately 20% of patients with BrS have rare variants in SCN5A , which e...

Preprint is available for those that want to find out more (www.medrxiv.org/content/10.1...), which is a collaboration between the laboratories of @amglazer.bsky.social and Jamie Vandenberg. I want to congratulate the co-first author Dr Joanne Ma, who has just completed her PhD @victorchang.edu.au

Membrane Physiology Symposium - Japan 2025, hosted by Nanion Technologies.

The Membrane Physiology Symposium (MPS) is now also taking place in Japan. During 17-18 July, I'll be in Tokyo to present our research on Brugada Syndrome, where we used automated patch clamp to quantify the function of Nav1.5 #ionchannel related to 252 unique SCN5A variants identified in patients.

I am getting ready for this, it will be a midnight talk for me at 12am, so I hope to see some of you there.
#ionchannels

I am around, let’s see if I will bump into you!

𝗖𝗮𝗻 𝘄𝗲 𝗶𝗺𝗽𝗿𝗼𝘃𝗲 𝘁𝗵𝗲 𝘄𝗮𝘆 𝘄𝗲 𝗶𝗻𝘁𝗲𝗿𝗽𝗿𝗲𝘁 𝗰𝗮𝗿𝗱𝗶𝗮𝗰 𝗴𝗲𝗻𝗲 𝘃𝗮𝗿𝗶𝗮𝗻𝘁𝘀?

Join Dr. Chai Ng (Victor Chang Cardiac Research Institute) on May 8 to explore APC’s role in variant classification for inherited arrhythmias.

🔗 ow.ly/XrnO50VymFI

#Webinar @chaiannng.bsky.social @victorchang.edu.au

Cardiac EP Society 2025 Annual Program! A Pathway to Precision Electrophysiology. Thu Apr 24, 2025 • 11 am – 7 pm • San Diego, CA • SDCC 33A-C Featuring Gordon K Moe Lecturer Dr. Dan Roden Also featuring lectures from Dr. Colleen Clancy, Dr. Emilia Entcheva, Dr. Chai Ann (Andy) Ng, Dr. Sai Veeraraghavan, Dr. Elijah Behr, Dr. Lee Eckhardt, Dr. Ivy Dick, and Dr. Katja Odening

Will you be attending the Cardiac EP Society's Annual Meeting later this month in sunny San Diego, CA? We will kick off the opening day of @heartrhythmsociety.bsky.social's HRS25 meeting with an outstanding lineup of expert speakers! Full program at cardiaceps.org #EPeeps #HRS25

I will definitely try this special issue of Genome Medicine for my upcoming patch clamp assay calibration for VUS interpretation in channelopathy.

Combined RNA Splicing and Patch-Clamp Analysis Reveal Pathogenicity of Splice-Altering Variants in KCNH2-Related LQTS | Circulation: Genomic and Precision Medicine

I am pleased to share this @ahajournals.bsky.social CircGen paper. It is a team effort. I hope we have provided valuable insights on how KCNH2 variant that alters splicing and causes a large in-frame deletion can lead to a dominant negative effect of Kv11.1 K+ #ionchannel function.

Patch clamp #ionchannel assay for NaV1.5-Brugada Syndrome.
#SCN5A

Cohort-scale automated patch clamp data improves variant classification and penetrance stratification for SCN5A-Brugada Syndrome Background: Brugada Syndrome (BrS) is an inherited arrhythmia disorder that causes an elevated risk of sudden cardiac death. Approximately 20% of patients with BrS have rare variants in SCN5A, which e...

This was a collaborative project led by Matthew O'Neill and Joanne Ma and co-supervised by Jamie Vandenberg, @chaiannng.bsky.social and myself. Check out our preprint for more details! www.medrxiv.org/content/10.1... [7/7]

Happy to be part of the Timothy Syndrome community.

I didn’t attend this GRC Cardiac Arrhythmia Mechanisms in Italy, but my PhD student, Joanne Ma, went and presented her SCN5A #ionchannel patch clamp assay and received a runner-up poster prize. She also received two job offers at the GRC meeting, which will boost her confidence.

Bringing my medicine honours students to visit the Heart Centre for Children at the Children’s Hospital at Westmead. Thanks 🙏 to Dr Hiroko and Dr Christian for having them. I am sure Lily Cai and Angela Rofail will learn a lot today and may also help their honours projects on Long QT Syndrome

Jess Li

Proud moment as a supervisor when my medicine honours student from last year received the "Student Researcher of the Year Award" from the UNSW St Vincent’s Clinical School. Jess established our SCN2A #ionchannel patch clamp assay to study variants of uncertain significance detected in Australia.

Attended the 2024 Excellence in Cardiovascular Research ACvA Awards Ceremony at Custom House in Brisbane. I am very happy to be a finalist for the Game Changer Award and the award goes to Prof John Fraser.

I have always wanted to work with testing laboratories to integrate #ionchannel functional data into their variant classification workflow to reclassify harmful variants as likely pathogenic and improve genetic diagnosis for patients with channelopathies. Under review, but preprint is available.

I am very honoured to be shortlisted as a finalist for this AcVA award. It will help me raise awareness that some VUS in cardiac ion channel genes are extremely harmful and ought to be reclassified as likely pathogenic, hopefully within the next few years.

A Christmas Carol light projection on St Mary’s Cathedral. Great fun for the kids.