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...

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...

onlinecjc.ca

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

Andrew Glazer@amglazer.bsky.social · 7mo ago

A nice editorial about our recent SCN5A automated patch clamp paper. @chaiannng.bsky.social academic.oup.com/eurheartj/ad...

Today is the deadline to submit your abstract.

Atlas of Variant Effects Alliance@varianteffect.bsky.social · 8mo ago

Be sure to submit your abstract by December 1st! #VariantEffect26 #abstract #final #deadline Please note that there will be no extensions ⌛ ℹ️ www.mss2026.org

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.

Andrew Glazer@amglazer.bsky.social · 9mo ago

📝 Excited to share our latest work, now out at European Heart Journal! We studied 252 SCN5A variants previously found in patients with Brugada Syndrome, an inherited arrhythmia disorder linked to sudden cardiac death. [1/4]

🗓️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

Nanion Technologies@naniontech.bsky.social · last yr.

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

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.

Heidi Rehm@heidirehm.bsky.social · last yr.

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.

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

ahajournals.org

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

Andrew Glazer@amglazer.bsky.social · last yr.

🧵 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]

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...

medrxiv.org

Happy to be part of the Timothy Syndrome community.

Timothy Syndrome Alliance (TSA)@cacna1c.bsky.social · last yr.

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

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.

medRxivpreprint@medrxivpreprint.bsky.social · last yr.

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

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 · 2y ago

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

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

Nanion Technologies@naniontech.bsky.social · 2y ago

𝗗𝗶𝗱 𝘆𝗼𝘂 𝗺𝗶𝘀𝘀 𝗼𝘂𝗿 𝗡𝗮𝗻𝗶𝗼𝗻 𝗨𝘀𝗲𝗿 𝗠𝗲𝗲𝘁𝗶𝗻𝗴? From organelles to tissues, and molecular mechanisms to nanosensing, the meeting explored research insights into the "small things" that are driving groundbreaking discoveries. Watch now: ow.ly/IgMT50UaOy8 #APC #CellAnalytics #MembraneBiophysics