📝 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]

🚨🧬 Registrations for the IV Bootcamp are now open! Limited to 30 spots—first come, first served. Acces the link in this thread.

Yes, some people's legacies are complicated. For example, Watson. After all, though he was racist, don't forget his other traits. For example, he was also sexist. And also anti-semitic. And a data / idea thief. So let's not forget all the different facets.

A weekend of 10th anniversaries! Sorry to miss the party for St George's MSc Genomic Medicine. But an amazing meeting for the birthday of the Institute for Cardiomyopathies Heidelberg - great speakers, excellent science and a beautiful location.

"Titin and the mystery of cardiomyopathy incidence" - our editorial commentary on the recent mega-study of TTN-related dilated cardiomyopathy, with @seanjosephjurgens.bsky.social @escardio.bsky.social doi.org/10.1093/eurh... #cardiosky 🧬🫀

📝Check out our review “Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine”, out in @natrevcardiol.nature.com. We review the use of Multiplexed Assays of Variant Effect and variant effect predictors in cardiovascular disease.

Our study on HCM intermediate effect variants (IEVs) is out today in Circulation, led by Juan Pablo Ochoa, Soledad García Hernandez and Luis De la Higuera Romero. IEVs are low frequency/penetrance variants with moderate effects sizes (OR:5-10). www.ahajournals.org/doi/10.1161/... #ESCcongress 🧬🫀

This They Might Be Giants TONIGHT SHOW performance of "Birdhouse In Your Soul" from 1990 remains firmly lodged in my noggin thanks to the Tonight Show Band's full commitment and Doc Severinsen's incredible trumpeting... It took an already great song and made it transcendent.

🗓️ 🧬 I am happy to announce that our next Bootcamp of Genetics for cardiologists will be an special edition in English. It will take place on May 8th 2026 in Barcelona just the day before ESC HFA congress so you can make the most of your trip!

Metaphors don't come clearer than this...

TANK vs TESLA "We've crushed fascism before and we'll crush it again" - ⁠WW2 veteran Ken, 98, in the tank

Champions 😎

Superb!

This is high art

I was getting a bit irritated by ChatGPT increasingly hallucinating people when asked for peer reviewer suggestions. But I'm not sure its sarcastic response was necessary 😒

🧵 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]

📝 Excited to share our latest article on hereditary transthyretin amyloidosis (ATTRv) caused by the Val142Ile variant in Spain Here's a summary thread by the authors: @revespcardiol.bsky.social

Pls retweet: ‼️ Skilled in bioinformatics? ⁉️ Join our cardiogenomics team @ AmsterdamUMC in lovely Amsterdam 🌷🌷 We have a vacancy for bioinformatician with prospect of permanent appointment. Info 👉🏻 werkenbij.amsterdamumc.org/en/vacatures... More about us and our approach here 👉🏻 tinyurl.com/5brcsazv

Does America have any idea what people around the world are thinking of it tonight? Where are the protests? Where is the opposition? Heartbreaking to see a nation's moral collapse like this.

The scenes in the Oval Office today will shame the US for decades. They’ll never be forgotten. A world leader, fighting for his country against the 21st century’s Nazis, came to the US and was attacked & abused by a gangster regime siding with the fascist invaders. A historic disgrace.

🧵 Polygenic scores in hypertrophic cardiomyopathy 📎 Paper: www.nature.com/articles/s41... in @naturegenet.bsky.social We created PGS using sumstats from our linked GWAS study www.nature.com/articles/s41..., evaluating it across a range of clinical settings in several cohorts. 1/n

A new autosomal recessive cause of arrhythmic cardiomyopathy - variants in TAX1BP3. Published in Circ Res today! URL: www.ahajournals.org/eprint/RCVCU... @ahascience.bsky.social @ahajournals.bsky.social #cardiosky #genetics #medsky #cardiogen

Fantastic effort led by Jodie, Amber & Sophie. A few key takeaways: - Robustness of process. From v1, moderate genes -> definitive, (many)limited genes -> disputed - HCM becoming more complex - AR, semi-dominant, mito - HCM not just a sarcomere gene disease anymore, guidelines need to catch up

Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29 Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social www.sciencedirect.com/science/arti...

Fascinating study on the prevalence of TRIM63 variants in HCM in a multi-ethnic cohort from Israel - biallelic variants in 4.7% of cases (= 18.5% of all P/LP cases). Additionally, monoallelic variants in 6.5% of HCM cases (OR=7.2 compared to controls). www.ahajournals.org/doi/10.1161/...

Clinical utility and implementation of polygenic risk scores for predicting cardiovascular disease academic.oup.com/eurheartj/ad... A clinical consensus statement of the ESC Council on Cardiovascular Genomics, ESC Cardiovascular Risk Collaboration and European Association of Preventive Cardiology

This.

Our study on an SCN5A enhancer variant that is a major cause of Brugada syndrome in Thailand has just been published in the first @ahajournals.bsky.social Circulation issue of 2025 - also now open access! www.ahajournals.org/doi/full/10.... #cardiosky #cardiogen 🧬

Fascinating study on a TTN enhancer. A MEF2-disrupting rare variant located in an intronic enhancer causing cardiac disease? TTN 🤝 SCN5A

Interesting case study of a homozygous PLN variant (p.L39*) in a patient with severe DCM requiring HTx (het parents had LV hypertrophy). onlinelibrary.wiley.com/doi/10.1111/... Just the third such case reported (AFAIK) - PLN has very complex geno-pheno associations... #cardiogen #cardiosky 🧬

If this country made the slightest bit of sense we'd be beating Europe's doors down to secure a youth mobility scheme. inews.co.uk/opinion/brex...

A little editorial I wrote for #JACCHF on the challenges of identifying modifier genetic factors for hypertrophic cardiomyopathy. @jaccjournals.bsky.social authors.elsevier.com/a/1kCHM7tD%7... (<- free access link until Jan 21st) #cardiogen

Wow. Here is one to brighten up your morning. The first images of the restored interior of Notre Dame cathedral. Breathtaking. In just five years France did it

DCM GWAS is trending! Happy to share our DCM GWAS published today. An effort spearheaded by Sean Jurgens and with the generous collaboration of many colleagues. One of the first papers emerging from DCM-NEXT EiC Pathfinder consortium (dcm-next.eu) www.nature.com/articles/s41...

🧬 Our dilated #cardiomyopathy GWAS out today! 📍https://www.nature.com/articles/s41588-024-01952-y All made possible with friends and collaborators from HERMES Consortium @alberthenry.bsky.social @tomlumbers.bsky.social @jamesware.bsky.social @mrc-lms.bsky.social @imperialnhli.bsky.social #BHF 🧵 👇

New paper out in @natureportfolio.bsky.social by @kathrynmcgurk.bsky.social on the genetic architecture of myocardial trabeculae. @mrc-lms.bsky.social www.nature.com/articles/s44...

Excited to share this new Scientific Advisory doc from AHA on Gene Therapy for Cardiovascular Disease A summary of mechanisms, delivery methods, future hurdles, and current trials (actually probably already out of date) www.ahajournals.org/doi/10.1161/... #AHA #CardioSky #cardiogen

Why is Brugada syndrome, which causes sudden cardiac death, so prevalent in Thailand and Southeast Asia? Our new preprint on @medrxivpreprint seeks to address this. A brief thread to describe the background and main findings of this study: 🧬 🖥️ www.medrxiv.org/content/10.1...

The Trouble with Trabeculation: How Genetics Can Help to Unravel a Complex and Controversial Phenotype - new review article, online now at JCTR, which describes the genetic basis of LVNC and the diagnostic utility of genetic testing. link.springer.com/article/10.1...

Our paper on "Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies" is published today in @NatureCVR www.nature.com/articles/s44... A brief thread on the main findings in the study: