Roddy Walsh 🇪🇺 🇺🇦
@roddywalsh.bsky.social
Scientist researching genetics/genomics of heritable heart diseases 🧬🫀 | Liberal extremist | Ex-traveller 🌍 | LFC ⚽️ & Munster 🏉 | He/him
Pinned
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
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 🧬
Reposted by Roddy Walsh 🇪🇺 🇺🇦
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.
November 8, 2025 at 12:52 AM
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.
October 11, 2025 at 3:34 PM
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 🧬🫀
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
September 10, 2025 at 4:48 PM
"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 🧬🫀
Reposted by Roddy Walsh 🇪🇺 🇺🇦
📝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.
September 3, 2025 at 7:03 PM
📝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 🧬🫀
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
August 29, 2025 at 4:46 PM
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 🧬🫀
IEVs are low frequency/penetrance variants with moderate effects sizes (OR:5-10).
www.ahajournals.org/doi/10.1161/...
#ESCcongress 🧬🫀
Reposted by Roddy Walsh 🇪🇺 🇺🇦
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.
August 23, 2025 at 8:44 AM
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.
Reposted by Roddy Walsh 🇪🇺 🇺🇦
🗓️ 🧬 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!
July 11, 2025 at 4:19 PM
🗓️ 🧬 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...
Interview with Harvard's 2025 valedictorian, a Chinese national, while two American men fight over nothing in the background
June 6, 2025 at 12:47 PM
Metaphors don't come clearer than this...
Reposted by Roddy Walsh 🇪🇺 🇺🇦
TANK vs TESLA
"We've crushed fascism before and we'll crush it again"
- WW2 veteran Ken, 98, in the tank
"We've crushed fascism before and we'll crush it again"
- WW2 veteran Ken, 98, in the tank
May 7, 2025 at 4:46 PM
TANK vs TESLA
"We've crushed fascism before and we'll crush it again"
- WW2 veteran Ken, 98, in the tank
"We've crushed fascism before and we'll crush it again"
- WW2 veteran Ken, 98, in the tank
Superb!
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...
"If they raised the Mary Rose, why not raise the Titanic?"
Allow our scaled diagram to explain...
April 15, 2025 at 10:33 AM
Superb!
Reposted by Roddy Walsh 🇪🇺 🇺🇦
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 😒
March 26, 2025 at 8:21 PM
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 🇪🇺 🇺🇦
🧵 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]
March 20, 2025 at 1:53 AM
🧵 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]
Reposted by Roddy Walsh 🇪🇺 🇺🇦
📝 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
March 8, 2025 at 12:45 PM
📝 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
Reposted by Roddy Walsh 🇪🇺 🇺🇦
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
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
March 1, 2025 at 12:12 PM
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
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
Reposted by Roddy Walsh 🇪🇺 🇺🇦
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.
February 28, 2025 at 8:29 PM
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.
Reposted by Roddy Walsh 🇪🇺 🇺🇦
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.
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.
February 28, 2025 at 6:11 PM
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.
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.
Reposted by Roddy Walsh 🇪🇺 🇺🇦
🧵 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
📎 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
February 18, 2025 at 3:21 PM
🧵 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
📎 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
Reposted by Roddy Walsh 🇪🇺 🇺🇦
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
URL: www.ahajournals.org/eprint/RCVCU...
@ahascience.bsky.social @ahajournals.bsky.social #cardiosky #genetics #medsky #cardiogen
February 18, 2025 at 12:59 PM
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
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
- 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...
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...
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…
www.sciencedirect.com
February 18, 2025 at 12:34 PM
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
- 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
Reposted by Roddy Walsh 🇪🇺 🇺🇦
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...
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...
Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…
www.sciencedirect.com
February 18, 2025 at 6:14 AM
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...
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/...
www.ahajournals.org/doi/10.1161/...
American Heart Association Journals
www.ahajournals.org
February 14, 2025 at 2:44 PM
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/...
www.ahajournals.org/doi/10.1161/...