Kate Thomson
@k-jt.bsky.social
NHS Clinical Scientist. Inherited cardiac conditions. Genomics in healthcare. Oxford.
Reposted by Kate Thomson
Episode 4 of the ESHG Webinar Series is now available on YouTube!
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.
📺 Watch the recording: youtu.be/pWhienkM6L4?...
#Genomics #RareDisease #VariantInterpretation #ESHG
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.
📺 Watch the recording: youtu.be/pWhienkM6L4?...
#Genomics #RareDisease #VariantInterpretation #ESHG
youtu.be
June 26, 2025 at 11:27 AM
Episode 4 of the ESHG Webinar Series is now available on YouTube!
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.
📺 Watch the recording: youtu.be/pWhienkM6L4?...
#Genomics #RareDisease #VariantInterpretation #ESHG
Kaitlin Samocha discusses how population data can improve variant interpretation, with a focus on rare disease.
📺 Watch the recording: youtu.be/pWhienkM6L4?...
#Genomics #RareDisease #VariantInterpretation #ESHG
Reposted by Kate Thomson
I'm not against preventative screening, if done appropriately, but all this money for preemptive WGS at a time when our budget for #genomic testing patients *who actually have a disease* is being cut by 10%?
Explain that to me someone.
Explain that to me someone.
June 24, 2025 at 8:16 PM
I'm not against preventative screening, if done appropriately, but all this money for preemptive WGS at a time when our budget for #genomic testing patients *who actually have a disease* is being cut by 10%?
Explain that to me someone.
Explain that to me someone.
Reposted by Kate Thomson
Evaluation of generation study (newborn genomes ‘pilot’) not yet done, so why announce it’s being rolled out to all babies??
We tried to make sense of issues involved cpm.ox.ac.uk/wp-content/u... and cpm.ox.ac.uk/event/newbor... led by excellent @rachel-horton.bsky.social @cpmoxford.bsky.social
We tried to make sense of issues involved cpm.ox.ac.uk/wp-content/u... and cpm.ox.ac.uk/event/newbor... led by excellent @rachel-horton.bsky.social @cpmoxford.bsky.social
June 22, 2025 at 7:21 AM
Evaluation of generation study (newborn genomes ‘pilot’) not yet done, so why announce it’s being rolled out to all babies??
We tried to make sense of issues involved cpm.ox.ac.uk/wp-content/u... and cpm.ox.ac.uk/event/newbor... led by excellent @rachel-horton.bsky.social @cpmoxford.bsky.social
We tried to make sense of issues involved cpm.ox.ac.uk/wp-content/u... and cpm.ox.ac.uk/event/newbor... led by excellent @rachel-horton.bsky.social @cpmoxford.bsky.social
Reposted by Kate Thomson
We want to learn more about the genetics of cardiomyopathy.
Are you over 18, in the UK and interested in taking part in research?
Go to thehearthive.org to learn more about the Heart Hive Cardiomyopathy Study.
Are you over 18, in the UK and interested in taking part in research?
Go to thehearthive.org to learn more about the Heart Hive Cardiomyopathy Study.
June 5, 2025 at 8:45 AM
We want to learn more about the genetics of cardiomyopathy.
Are you over 18, in the UK and interested in taking part in research?
Go to thehearthive.org to learn more about the Heart Hive Cardiomyopathy Study.
Are you over 18, in the UK and interested in taking part in research?
Go to thehearthive.org to learn more about the Heart Hive Cardiomyopathy Study.
Reposted by Kate Thomson
Our paper now published! 🙌🏻🧬🫀
@alexbutters25.bsky.social
@k-jt.bsky.social
@njhenden.bsky.social
@dgmacarthur.bsky.social
@kathrynmcgurk.bsky.social @jamesware.bsky.social @sharday-penn.bsky.social @rdbagnall.bsky.social @garvaninstitute.bsky.social @escardio.bsky.social
doi.org/10.1093/eurh...
@alexbutters25.bsky.social
@k-jt.bsky.social
@njhenden.bsky.social
@dgmacarthur.bsky.social
@kathrynmcgurk.bsky.social @jamesware.bsky.social @sharday-penn.bsky.social @rdbagnall.bsky.social @garvaninstitute.bsky.social @escardio.bsky.social
doi.org/10.1093/eurh...
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets
Inherited cardiomyopathies, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies affect ∼1 in 200–500 in the population. Gen
doi.org
April 17, 2025 at 3:46 AM
Reposted by Kate Thomson
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
www.ahajournals.org
March 27, 2025 at 1:40 PM
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.
Reposted by Kate Thomson
I am giving an online webinar in an hour for @eshg.bsky.social, if anyone is interested and free 👇
The first episode of our #eshg Webinar Series was a great success! The recording is now on YouTube.
📅 Episode 2: March 26, 2025 (16:00 CET)
📌 "The non-coding exome in rare disease"
🎙️ By Nicola Whiffin
Join us live on Zoom – participation is free! 🔗 Register now: buff.ly/l6d0fai
📅 Episode 2: March 26, 2025 (16:00 CET)
📌 "The non-coding exome in rare disease"
🎙️ By Nicola Whiffin
Join us live on Zoom – participation is free! 🔗 Register now: buff.ly/l6d0fai
March 26, 2025 at 1:59 PM
I am giving an online webinar in an hour for @eshg.bsky.social, if anyone is interested and free 👇
Reposted by Kate Thomson
🧵 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 Kate Thomson
New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...
Evidence Aggregator: AI reasoning applied to rare disease diagnostics
Retrieving, reviewing, and synthesizing technical information can be time-consuming and challenging, particularly when requiring specialized expertise, as is the case of variant assessment for rare di...
www.biorxiv.org
March 15, 2025 at 2:44 AM
New preprint! We worked with @msftresearch.bsky.social and @broadinstitute.org to see whether large language models (LLMs) can be useful to variant scientists in deciding whether genetic variants seen in a patient are responsible for their disease. tl;dr yes they can: www.biorxiv.org/content/10.1...
Reposted by Kate Thomson
Let me tell you a story about 2 patients we identified, both with a rare variant in TNNT2; NM_001001430.3: c.571-1G>A. Both had cardiac phenotypes and both had Oceanian ancestry
Our latest in EHJ! @alexbutters25.bsky.social @escardio.bsky.social #medsky #genechat #cardiosky
doi.org/10.1093/eurh...
Our latest in EHJ! @alexbutters25.bsky.social @escardio.bsky.social #medsky #genechat #cardiosky
doi.org/10.1093/eurh...
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets
Inherited cardiomyopathies, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies affect ∼1 in 200–500 in the population. Gen
doi.org
March 5, 2025 at 6:08 AM
Let me tell you a story about 2 patients we identified, both with a rare variant in TNNT2; NM_001001430.3: c.571-1G>A. Both had cardiac phenotypes and both had Oceanian ancestry
Our latest in EHJ! @alexbutters25.bsky.social @escardio.bsky.social #medsky #genechat #cardiosky
doi.org/10.1093/eurh...
Our latest in EHJ! @alexbutters25.bsky.social @escardio.bsky.social #medsky #genechat #cardiosky
doi.org/10.1093/eurh...
Reposted by Kate Thomson
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...
Reposted by Kate Thomson
🫀🧬Great work by the Filamin C Registry Consortium! In their multicenter retrospective study, FLNCtv was linked to higher risk of sudden cardiac death (SCD) & malignant ventricular arrhythmia (MVA), especially in probands & phenotype-positive cases. jamanetwork.com/journals/jam...
Arrhythmic Risk Stratification of Carriers of FLNCtv
This cohort study investigates the arrhythmic risk profile of carriers of filamin C truncating variants (FLNCtv) and the risk factors associated with the risk of life-threatening ventricular arrhythmi...
jamanetwork.com
February 16, 2025 at 4:55 PM
🫀🧬Great work by the Filamin C Registry Consortium! In their multicenter retrospective study, FLNCtv was linked to higher risk of sudden cardiac death (SCD) & malignant ventricular arrhythmia (MVA), especially in probands & phenotype-positive cases. jamanetwork.com/journals/jam...
Reposted by Kate Thomson
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
January 1, 2025 at 3:11 PM
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 Kate Thomson
Announcing new free ESHG webinar series!
🗓️ Last Wednesday of each month
📅 First episode: Feb 26, 2025 (16:00 CET)
🎤 Speaker: Malte Spielmann
💡 Topic: "The Dark Side of the #Genome: Challenges & Opportunities in the Post-Genomic Era"
🔗 Register now: wma.eventsair.com/eshg-webinar...
🗓️ Last Wednesday of each month
📅 First episode: Feb 26, 2025 (16:00 CET)
🎤 Speaker: Malte Spielmann
💡 Topic: "The Dark Side of the #Genome: Challenges & Opportunities in the Post-Genomic Era"
🔗 Register now: wma.eventsair.com/eshg-webinar...
December 20, 2024 at 8:42 AM
Announcing new free ESHG webinar series!
🗓️ Last Wednesday of each month
📅 First episode: Feb 26, 2025 (16:00 CET)
🎤 Speaker: Malte Spielmann
💡 Topic: "The Dark Side of the #Genome: Challenges & Opportunities in the Post-Genomic Era"
🔗 Register now: wma.eventsair.com/eshg-webinar...
🗓️ Last Wednesday of each month
📅 First episode: Feb 26, 2025 (16:00 CET)
🎤 Speaker: Malte Spielmann
💡 Topic: "The Dark Side of the #Genome: Challenges & Opportunities in the Post-Genomic Era"
🔗 Register now: wma.eventsair.com/eshg-webinar...
Reposted by Kate Thomson
The changing landscape of genetics and insurance in the UK - report on an event hosted by the Centre for Personalised Medicine, Oxford and the British Society for Genetic Medicine. bsgm.org.uk/media/12689/...
bsgm.org.uk
December 3, 2024 at 1:38 PM
The changing landscape of genetics and insurance in the UK - report on an event hosted by the Centre for Personalised Medicine, Oxford and the British Society for Genetic Medicine. bsgm.org.uk/media/12689/...
Reposted by Kate Thomson
🧬 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
🧵 👇
📍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
🧵 👇
November 21, 2024 at 1:35 PM
🧬 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
🧵 👇
📍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
🧵 👇
Reposted by Kate Thomson
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
December 2, 2024 at 9:05 PM
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