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.

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.

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

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

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.

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

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

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.

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.

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

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.

@naniontech.bsky.social user meeting on demand videos if interested #ionchannels

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

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

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

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

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.

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

#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

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🙂