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Chai Ann Ng @chaiannng.bsky.social · Aug 18

#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.

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Chai Ann Ng @chaiannng.bsky.social · Aug 16

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.

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Chai Ann Ng @chaiannng.bsky.social · Jul 31

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

Chai Ann Ng @chaiannng.bsky.social · Jul 31

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.

www.ahajournals.org

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Chai Ann Ng @chaiannng.bsky.social · Jul 31

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

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Chai Ann Ng @chaiannng.bsky.social · Jul 18

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

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Chai Ann Ng @chaiannng.bsky.social · Jul 6

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...

Membrane Physiology Symposium 2025 - Japan - Nanion Technologies

Join us at Nanion Unser Meeting Munich 2023, on-site or online for 2 days of outstanding talks, product demos, posters, networking, and much more!

www.nanion.de

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Chai Ann Ng @chaiannng.bsky.social · Jul 6

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

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...

www.medrxiv.org

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Chai Ann Ng @chaiannng.bsky.social · Jul 6

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.

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Chai Ann Ng @chaiannng.bsky.social · May 7

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

Nanion Technologies @naniontech.bsky.social · May 5

Most cardiac gene variants are still classed as “uncertain.”

Join us on Thursday to learn how APC is helping reclassify VUS and improve clinical decisions.

🗓️ May 8 | 16:00–17:00 CEST
🔗 ow.ly/RQfB50VFl93

Hope to see you there!
#CardiacGenetics #APC #VUS #LQTS #Brugada

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Chai Ann Ng @chaiannng.bsky.social · Apr 25

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

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Reposted by Chai Ann Ng

Nanion Technologies @naniontech.bsky.social · Apr 11

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

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Reposted by Chai Ann Ng

Cardiac EPS @cardiaceps.bsky.social · Apr 6

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

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Chai Ann Ng @chaiannng.bsky.social · Mar 29

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

Heidi Rehm @heidirehm.bsky.social · Mar 28

We are excited to announce a call for papers for a special issue of Genome Medicine genomemedicine.biomedcentral.com on "Clinical interpretation of genome variation". The submission deadline is Dec 18, 2025. More info here: go.sn.pub/gskvsk.

Call for papers - Clinical interpretation of genome variation: volume II

go.sn.pub

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Chai Ann Ng @chaiannng.bsky.social · Mar 27

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.

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

www.ahajournals.org

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Chai Ann Ng @chaiannng.bsky.social · Mar 20

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

Andrew Glazer @amglazer.bsky.social · Mar 20

🧵 I’m excited to share our latest preprint! We studied 252 SCN5A variants found in patients with Brugada Syndrome by automated patch clamp. [1/7]

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Reposted by Chai Ann Ng

Andrew Glazer @amglazer.bsky.social · Mar 20

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]

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...

www.medrxiv.org

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Chai Ann Ng @chaiannng.bsky.social · Mar 19

Happy to be part of the Timothy Syndrome community.

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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Chai Ann Ng @chaiannng.bsky.social · Mar 15

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.

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Chai Ann Ng @chaiannng.bsky.social · Mar 13

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

Chai Ann Ng @chaiannng.bsky.social · Mar 7

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.

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Chai Ann Ng @chaiannng.bsky.social · Feb 20

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.

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Chai Ann Ng @chaiannng.bsky.social · Feb 9

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.

medRxivpreprint @medrxivpreprint.bsky.social · Feb 8

Calibrated Functional Data Decreases Clinical Uncertainty for Tier 1 Monogenic Disease: Application to Long QT Syndrome https://www.medrxiv.org/content/10.1101/2025.02.05.25321617v1

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Chai Ann Ng @chaiannng.bsky.social · Feb 5

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.

Victor Chang Cardiac Research Institute @victorchang.edu.au · Jan 29

Our fingers are crossed for Dr @ChaiAnn_Ng who's been announced as a Finalist for the 2024 @OzCvA Excellence in Cardiovascular Research Game Changer Award. Fantastic recognition of his world-leading research into preventing sudden cardiac arrest.
#MedicalResearch #HeartDisease

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Chai Ann Ng @chaiannng.bsky.social · Dec 24

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

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