iiinova — where your digital self keeps evolving

Chai Ann Ng @chaiannng.bsky.social · 21/03/2026

I am glad to be able to help this family to have their KCNH2 VUS reclassified to likely pathogenic by Blueprints KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome - Canadian Journal of Cardiology onlinecjc.ca/article/S082...

onlinecjc.ca

KCNH2 Duplication Variant (c.2164_2181dup) Associated with Sudden Cardiac Death in a Family with Congenital Long QT Syndrome

Congenital Long QT syndrome (LQTS) is an inherited arrhythmogenic disorder characterized by prolonged QTc intervals and T-wave abnormalities on electrocardiogram (ECG). Prolonged QT intervals can lead...

031

Chai Ann Ng @chaiannng.bsky.social · 21/01/2026

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

053

Reposted by Chai Ann Ng

Lara Muffley @muffley.bsky.social · 01/12/2025

Today is the deadline to submit your abstract.

012

Chai Ann Ng @chaiannng.bsky.social · 26/11/2025

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.

030

Chai Ann Ng @chaiannng.bsky.social · 21/11/2025

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.

083

Reposted by Chai Ann Ng

Atlas of Variant Effects Alliance @varianteffect.bsky.social · 03/11/2025

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

054

Chai Ann Ng @chaiannng.bsky.social · 18/08/2025

#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.

021

Chai Ann Ng @chaiannng.bsky.social · 16/08/2025

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.

041

Chai Ann Ng @chaiannng.bsky.social · 31/07/2025

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

112

Chai Ann Ng @chaiannng.bsky.social · 18/07/2025

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

011

Chai Ann Ng @chaiannng.bsky.social · 06/07/2025

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.

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

111

Chai Ann Ng @chaiannng.bsky.social · 07/05/2025

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

031

Reposted by Chai Ann Ng

Nanion Technologies @naniontech.bsky.social · 11/04/2025

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

033

Reposted by Chai Ann Ng

Cardiac EPS @cardiaceps.bsky.social · 06/04/2025

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

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

143

Chai Ann Ng @chaiannng.bsky.social · 29/03/2025

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

021

Chai Ann Ng @chaiannng.bsky.social · 27/03/2025

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.

ahajournals.org

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

075

Chai Ann Ng @chaiannng.bsky.social · 20/03/2025

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

042

Chai Ann Ng @chaiannng.bsky.social · 19/03/2025

Happy to be part of the Timothy Syndrome community.

020

Chai Ann Ng @chaiannng.bsky.social · 15/03/2025

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.

040

Chai Ann Ng @chaiannng.bsky.social · 13/03/2025

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

000

Chai Ann Ng @chaiannng.bsky.social · 07/03/2025

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.

071

Chai Ann Ng @chaiannng.bsky.social · 20/02/2025

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.

040

Chai Ann Ng @chaiannng.bsky.social · 09/02/2025

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.

041

Chai Ann Ng @chaiannng.bsky.social · 05/02/2025

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.

050

Chai Ann Ng @chaiannng.bsky.social · 24/12/2024

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

010

Chai Ann Ng @chaiannng.bsky.social · 22/12/2024

It’s the same house but with 3 different views. We brought the kids to visit the Christmas lights display every year. Maybe around 15 houses on the same streets were decorated, raising fund for Bear Cottage, Sydney Children's hospice.

000

Chai Ann Ng @chaiannng.bsky.social · 12/12/2024

This morning's MDT was productive. It brought together cardiologists, clinical geneticists, genetic counsellors, research scientists, and the head of my local clinical testing laboratory to discuss and reclassify a suspicious SCN5A VUS as pathogenic. It was a good outcome for this family but 1/2

121

Chai Ann Ng @chaiannng.bsky.social · 10/12/2024

In-person presentation is always the best but sometimes online presentation is necessary. Thanks to the NHS South East Genomic Laboratory Hub for inviting me to speak about Integration of functional evidence to support the pathogenicity of ion channel variants in clinical testing laboratories.

150

Chai Ann Ng @chaiannng.bsky.social · 03/12/2024

Just booked AirBnB in San Diego to attend #HRS2025. I will present my talk “Automated patch clamping studies of cardiac ion channels” on 24 Apr, in the session hosted by the Cardiac Electrophysiology Society. Hope to meet some new friends, #ionchannels or not #cardiosky #medsky @victorchang.edu.au

090

Chai Ann Ng @chaiannng.bsky.social · 02/12/2024

Editorial by Barry London for our recent KCNH2 paper (DOI: 10.1161/CIRCULATIONAHA.124.069828). #cardiosky #ionchannels DOI: 10.1161/CIRCULATIONAHA.124.072169

194

Chai Ann Ng @chaiannng.bsky.social · 29/11/2024

Very proud of my honours students who were awarded with “Exceptional Speaker” and “Outstanding Poster” for their presentations at the @ausgenomics.bsky.social AFGN symposium. @victorchang.edu.au @emmagenetics.bsky.social

0111

Chai Ann Ng @chaiannng.bsky.social · 27/11/2024

One day to go for the @ausgenomics.bsky.social AFGN symposium in Melbourne. My students and I took this opportunity to present our patch clamp results for SCN1A and SCN2A to Sam and Michael (Ingrid was away) from Epilepsy Research Centre located at Melbourne Brain Centre, Heidelberg. #ionchannels

050

Chai Ann Ng @chaiannng.bsky.social · 23/11/2024

My kids requested I bought back some Maple syrup when I was in Vancouver. Got a bottle from Granville Island and tasted it today and we like it.

050

Chai Ann Ng @chaiannng.bsky.social · 22/11/2024

It was my pleasure to visit the British Columbia Inherited Arrhythmia Program at St Paul’s Hospital and met Andrew and Brianna. Hopefully I will be able to work with HiRO in 2025. #cardiosky

000

Chai Ann Ng @chaiannng.bsky.social · 20/11/2024

#HRS2025 is in San Diego (24-27 Apr 2025). I am extremely excited to present my research in the Cardiac EPS Annual Meeting, which would be on Day 1 of HRS2025. The theme this year is “A pathway to precision electrophysiology”. tinyurl.com/5a6rrteu

031

Chai Ann Ng @chaiannng.bsky.social · 20/11/2024

As my first post, I present you with a summary figure of the patch-clamp data that was used in the #KCNH2 paper but it was not actually in the paper, but I quite like it, so I published it here at Bluesky🙂

0121