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Roddy Walsh 🇪🇺 🇺🇦

@roddywalsh.bsky.social

260 followers 130 following 40 posts

Scientist researching genetics/genomics of heritable heart diseases 🧬🫀 | Liberal extremist | Ex-traveller 🌍 | LFC ⚽️ & Munster 🏉 | He/him

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Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Jan 1

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 🧬

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand | Circulation

BACKGROUND: Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in the SCN5A gene encoding the Nav1.5 sodium channel and common nonc...

www.ahajournals.org

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Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · 24m

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.

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · 13d

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Sep 10

The original article by Johnson et al:

doi.org/10.1093/eurh...

AbstractBackground and Aims. Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur a

doi.org

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Sep 10

"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 🧬🫀

Titin and the mystery of cardiomyopathy incidence

This editorial refers to ‘Titin-related familial dilated cardiomyopathy: factors associated with disease onset’, by R. Johnson et al., https://doi.org/10.1

doi.org

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Reposted by Roddy Walsh 🇪🇺 🇺🇦

Andrew Glazer @amglazer.bsky.social · Sep 3

📝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.

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Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Aug 29

IEVs are regularly identified in HCM clinical genetic testing but are currently inadequately classified and reported (as either VUS or likely benign). Important that we move beyond simple Mendelian approaches to incorporate more comprehensive genetic profiling and risk assessment.

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Aug 29

IEVs can co-occur with rare Mendelian pathogenic variants, where they cause a severe phenotype including ⬆️ MACE, or in isolation where they have milder effects (age at diagnosis and wall thickness between genotype-positive and genotype-negative cases).

Clinical effects of intermediate effect variants on age of HCM diagnosis and major adverse cardiac events, compared to rare pathogenic variant carriers (genotype-positive) and genotype-negative cases.

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Aug 29

Comparing >10K HCM cases with ancestry-matched controls, we identified 14 IEVs occurring in 6% of cases. Importantly, in 2/3 of carriers, IEVs were in non-sarcomere genes.

While we focused on Euro-ancestry cases, gnomAD data can highlight variants more prevalent in other populations:

Characteristics of 14 HCM-associated intermediate effect variants - enrichment over ancestry-matched controls, odds ratios, ClinVar classifications, gnomAD frequencies and other evidence for pathogenicity.

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Aug 29

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 🧬🫀

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate Effect Variants | Circulation

Background: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disorder primarily linked to rare variants in sarcomere genes, though recently certain non-sarcomeric genes have emerged as...

www.ahajournals.org

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Reposted by Roddy Walsh 🇪🇺 🇺🇦

Ken Plume @kenplume.bsky.social · Aug 23

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.

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Reposted by Roddy Walsh 🇪🇺 🇺🇦

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Jul 11

🗓️ 🧬 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!

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Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Jun 6

Metaphors don't come clearer than this...

UAE Exotic Falconry & Finance𓅃 @falconryfinance.bsky.social · Jun 5

Interview with Harvard's 2025 valedictorian, a Chinese national, while two American men fight over nothing in the background

Reposted by Roddy Walsh 🇪🇺 🇺🇦

Led By Donkeys @ledbydonkeys.org · May 7

TANK vs TESLA

"We've crushed fascism before and we'll crush it again"

- ⁠WW2 veteran Ken, 98, in the tank

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Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Apr 27

Champions 😎

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Apr 15

Superb!

The Mary Rose Museum @maryrosemuseum.bsky.social · Apr 15

On the anniversary of the sinking of the Titanic, we thought we'd answer a question that's often asked,

"If they raised the Mary Rose, why not raise the Titanic?"

Allow our scaled diagram to explain...

A light blue diagram depicting the sea, with the water's surface at the top, and just below it is an outline of the Mary Rose, with the depth (12m, 40ft or 6.7 fathoms). There is a line showing the seabed, which takes a rapid dive into the vertical...

Reposted by Roddy Walsh 🇪🇺 🇺🇦

Satan’s Niece @krissychula.bsky.social · Apr 6

This is high art

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Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Mar 26

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 😒

Reposted by Roddy Walsh 🇪🇺 🇺🇦

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 Roddy Walsh 🇪🇺 🇺🇦

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

📝 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

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Reposted by Roddy Walsh 🇪🇺 🇺🇦

Connie Bezzina @conniebezzina.bsky.social · Mar 1

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

Cardiogenetics Amsterdam

In Amsterdam UMC researchers and clinicians team up in (inter)national studies to increase our understanding of genetic heart diseases, and apply new insights in clinical practice, and thereby provide the best care to our patients.

tinyurl.com

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Reposted by Roddy Walsh 🇪🇺 🇺🇦

Ian Dunt @iandunt.bsky.social · Feb 28

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.

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Reposted by Roddy Walsh 🇪🇺 🇺🇦

News Eye @newseye.bsky.social · Feb 28

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.

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Reposted by Roddy Walsh 🇪🇺 🇺🇦

Sean @seanlzheng.bsky.social · Feb 18

🧵 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

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Reposted by Roddy Walsh 🇪🇺 🇺🇦

Andrew Landstrom @andrewlandstrom.bsky.social · Feb 18

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

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