Kathryn McGurk
@kathrynmcgurk.bsky.social
Cardiovascular Geneticist / Bioinformatician 🇮🇪 BHF Immediate Research Fellow at Imperial College London, UK.
https://profiles.imperial.ac.uk/k.mcgurk
https://profiles.imperial.ac.uk/k.mcgurk
Pinned
Kathryn McGurk
@kathrynmcgurk.bsky.social
· Nov 22
We want to learn more about the genetics of Takotsubo 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.
#takotsubo #research #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.
#takotsubo #research #cardiomyopathy
We’re really excited to focus on understanding takotsubo cardiomyopathy. Have your say and take part in research to help us find the causes, risks, and treatments 💪🫀🧬 @thebhf.bsky.social
Double representation from @cvgenomics.bsky.social 💪 ( @jamesware.bsky.social ) 🧬 🫀
The two sessions on penetrance and expressivity were among my top favourite seesions this year.
#ESHG2025
#ESHG2025
May 27, 2025 at 9:43 AM
Double representation from @cvgenomics.bsky.social 💪 ( @jamesware.bsky.social ) 🧬 🫀
Reposted by Kathryn McGurk
Kathryn McGurk: Penetrance of secondary findings in inherited cardiomyopathies.
- Bluesky exchange on the slides
- Pathogenicity vs penetrance - Estimates of prevalence are uncertain
- Men have increased penetrance
-Cut-off for high/medium/low penetrance?
#ESHG2025
- Bluesky exchange on the slides
- Pathogenicity vs penetrance - Estimates of prevalence are uncertain
- Men have increased penetrance
-Cut-off for high/medium/low penetrance?
#ESHG2025
May 25, 2025 at 4:36 PM
Kathryn McGurk: Penetrance of secondary findings in inherited cardiomyopathies.
- Bluesky exchange on the slides
- Pathogenicity vs penetrance - Estimates of prevalence are uncertain
- Men have increased penetrance
-Cut-off for high/medium/low penetrance?
#ESHG2025
- Bluesky exchange on the slides
- Pathogenicity vs penetrance - Estimates of prevalence are uncertain
- Men have increased penetrance
-Cut-off for high/medium/low penetrance?
#ESHG2025
Increase your step count before your next round of pasta tonight, and come chat penetrance with us in the final session of today at 5.15pm in the auditorium #ESHG2025 🍝
May 25, 2025 at 8:55 AM
Increase your step count before your next round of pasta tonight, and come chat penetrance with us in the final session of today at 5.15pm in the auditorium #ESHG2025 🍝
Reposted by Kathryn McGurk
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
Excited to discuss our work on penetrance at #ESHG2025 in Milan, Sun 25th May at 5.15pm CEST. Thanks to @eshg.bsky.social for their support while I’m on maternity leave 👶🏼 2025.eshg.org/speakers/
Speakers
Meet our confirmed conference speakers for the 2025 conference.
Kaur Alasoo, Estonia
Laura Arbour, Canada
Mary Armanios, United States
Hassan Arsalan, Pakistan
Anna Aschenbrenner, Germany
Ro...
2025.eshg.org
April 7, 2025 at 10:31 AM
Excited to discuss our work on penetrance at #ESHG2025 in Milan, Sun 25th May at 5.15pm CEST. Thanks to @eshg.bsky.social for their support while I’m on maternity leave 👶🏼 2025.eshg.org/speakers/
Reposted by Kathryn McGurk
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 Kathryn McGurk
💡 #ResearchSpotlight Emma Jennings is studying Biomedical Science and was diagnosed with dilated cardiomyopathy at the age of 1. Her paper on the needs and potential research avenues for young people with DCM combines her lived experience and her perspective as a scientist. Read more: bit.ly/4gFS6WL
February 19, 2025 at 10:02 AM
💡 #ResearchSpotlight Emma Jennings is studying Biomedical Science and was diagnosed with dilated cardiomyopathy at the age of 1. Her paper on the needs and potential research avenues for young people with DCM combines her lived experience and her perspective as a scientist. Read more: bit.ly/4gFS6WL
Reposted by Kathryn McGurk
🫀🧬 Science is a social process, and translating knowledge into action requires understanding patient perspectives. Let’s prioritize research questions that address the concerns of the communities we serve!
Fantastic to work with Emma, a patient-scientist with DCM, on this review informed by her perspective, please check it out!
www.cambridge.org/core/journal...
www.cambridge.org/core/journal...
Dilated cardiomyopathy in the young: a patient-scientist informed review of unmet needs | Cardiology in the Young | Cambridge Core
Dilated cardiomyopathy in the young: a patient-scientist informed review of unmet needs
www.cambridge.org
February 6, 2025 at 1:28 PM
🫀🧬 Science is a social process, and translating knowledge into action requires understanding patient perspectives. Let’s prioritize research questions that address the concerns of the communities we serve!
Fantastic to work with Emma, a patient-scientist with DCM, on this review informed by her perspective, please check it out!
www.cambridge.org/core/journal...
www.cambridge.org/core/journal...
Dilated cardiomyopathy in the young: a patient-scientist informed review of unmet needs | Cardiology in the Young | Cambridge Core
Dilated cardiomyopathy in the young: a patient-scientist informed review of unmet needs
www.cambridge.org
February 6, 2025 at 8:59 AM
Fantastic to work with Emma, a patient-scientist with DCM, on this review informed by her perspective, please check it out!
www.cambridge.org/core/journal...
www.cambridge.org/core/journal...
Reposted by Kathryn McGurk
February is #HeartMonth! Want to get involved in heart research but not sure how? The Heart Hive is an online portal where you can sign up to take part in research studies.
Go to thehearthive.org to find out more and register today.
#NationalHeartMonth #HeartResearch #ParticipateInResearch
Go to thehearthive.org to find out more and register today.
#NationalHeartMonth #HeartResearch #ParticipateInResearch
February 5, 2025 at 11:02 AM
February is #HeartMonth! Want to get involved in heart research but not sure how? The Heart Hive is an online portal where you can sign up to take part in research studies.
Go to thehearthive.org to find out more and register today.
#NationalHeartMonth #HeartResearch #ParticipateInResearch
Go to thehearthive.org to find out more and register today.
#NationalHeartMonth #HeartResearch #ParticipateInResearch
Reposted by Kathryn McGurk
Estimated population penetrance for variants associated with cardiomyopathies are now displayed alongside cardiac allele frequencies. This information is useful when considering secondary findings @jamesware.bsky.social @kathrynmcgurk.bsky.social
January 8, 2025 at 4:03 PM
Estimated population penetrance for variants associated with cardiomyopathies are now displayed alongside cardiac allele frequencies. This information is useful when considering secondary findings @jamesware.bsky.social @kathrynmcgurk.bsky.social
New preprint out from some summer explorations into the UK Biobank proteomics data; in-depth genetic and phenotypic analyses of 9 interesting cardiovascular proteins 🫀🧬
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
Circulating cardiovascular proteomic associations with genetics and disease
Background The analysis of the circulating proteome can identify translational modifiers and biomarkers of disease expressivity and severity at a given time point. Here we explore the relationships be...
www.medrxiv.org
December 1, 2024 at 1:08 PM
New preprint out from some summer explorations into the UK Biobank proteomics data; in-depth genetic and phenotypic analyses of 9 interesting cardiovascular proteins 🫀🧬
www.medrxiv.org/content/10.1...
www.medrxiv.org/content/10.1...
We’re really excited to focus on understanding takotsubo cardiomyopathy. Have your say and take part in research to help us find the causes, risks, and treatments 💪🫀🧬 @thebhf.bsky.social
We want to learn more about the genetics of Takotsubo 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.
#takotsubo #research #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.
#takotsubo #research #cardiomyopathy
November 22, 2024 at 6:52 PM
We’re really excited to focus on understanding takotsubo cardiomyopathy. Have your say and take part in research to help us find the causes, risks, and treatments 💪🫀🧬 @thebhf.bsky.social
Reposted by Kathryn McGurk
🫀 New research by NHLI & @mrc-lms.bsky.social researchers reveals how our genes influence cardiac trabeculae – a network of heart muscle fibres. @kathrynmcgurk.bsky.social @drdeclanoregan.bsky.social @seanlzheng.bsky.social @jamesware.bsky.social #medsky
www.imperial.ac.uk/news/258501/...
www.imperial.ac.uk/news/258501/...
New insights into crucial heart muscles | Imperial News | Imperial College London
Researchers at the MRC Laboratory of Medical Sciences and Imperial College London have unveiled new genes involved in heart fibres called trabeculae
www.imperial.ac.uk
November 22, 2024 at 3:37 PM
🫀 New research by NHLI & @mrc-lms.bsky.social researchers reveals how our genes influence cardiac trabeculae – a network of heart muscle fibres. @kathrynmcgurk.bsky.social @drdeclanoregan.bsky.social @seanlzheng.bsky.social @jamesware.bsky.social #medsky
www.imperial.ac.uk/news/258501/...
www.imperial.ac.uk/news/258501/...
Reposted by Kathryn McGurk
Two very nice papers in cardiovascular genetics in two days.
The first examines myocardial trabeculation:
www.nature.com/articles/s44...
The first examines myocardial trabeculation:
www.nature.com/articles/s44...
Genetic and phenotypic architecture of human myocardial trabeculation - Nature Cardiovascular Research
The inner surface of the heart has a meshwork of muscles called trabeculae. McGurk et al. report the genetic regulation of these complex structures across common and rare variants, revealing pathways ...
www.nature.com
November 21, 2024 at 11:01 PM
Two very nice papers in cardiovascular genetics in two days.
The first examines myocardial trabeculation:
www.nature.com/articles/s44...
The first examines myocardial trabeculation:
www.nature.com/articles/s44...
Reposted by Kathryn McGurk
Ive taken this job of finding all of our cardiovascular genomics people and adding them to this starter pack, very seriously. Many newbies just added! And don’t forget our hashtag: #cardiogen
#cardiosky #medsky #genechat
go.bsky.app/4NjCKhB
#cardiosky #medsky #genechat
go.bsky.app/4NjCKhB
November 21, 2024 at 8:11 PM
Ive taken this job of finding all of our cardiovascular genomics people and adding them to this starter pack, very seriously. Many newbies just added! And don’t forget our hashtag: #cardiogen
#cardiosky #medsky #genechat
go.bsky.app/4NjCKhB
#cardiosky #medsky #genechat
go.bsky.app/4NjCKhB
Reposted by Kathryn McGurk
🧬 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 Kathryn McGurk
🫀New paper by @kathrynmcgurk.bsky.social with @drdeclanoregan.bsky.social published today in
@natureportfolio.bsky.social describes the genetic architecture of myocardial trabeculae - the network of muscle fibres in the heart.🫀
@imperialnhli.bsky.social @thebhf.bsky.social
#Medsky #Cardiosky 🧪
@natureportfolio.bsky.social describes the genetic architecture of myocardial trabeculae - the network of muscle fibres in the heart.🫀
@imperialnhli.bsky.social @thebhf.bsky.social
#Medsky #Cardiosky 🧪
November 20, 2024 at 4:43 PM
🫀New paper by @kathrynmcgurk.bsky.social with @drdeclanoregan.bsky.social published today in
@natureportfolio.bsky.social describes the genetic architecture of myocardial trabeculae - the network of muscle fibres in the heart.🫀
@imperialnhli.bsky.social @thebhf.bsky.social
#Medsky #Cardiosky 🧪
@natureportfolio.bsky.social describes the genetic architecture of myocardial trabeculae - the network of muscle fibres in the heart.🫀
@imperialnhli.bsky.social @thebhf.bsky.social
#Medsky #Cardiosky 🧪
Exciting first bluesky post! We estimated trabecular complexity in 50,000 UK Biobank participants to identify influencing genetic, clinical, and lifestyle factors. Trabeculation progresses with cardiac diseases and changes can occur early in pathogenesis.
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...
Genetic and phenotypic architecture of human myocardial trabeculation - Nature Cardiovascular Research
The inner surface of the heart has a meshwork of muscles called trabeculae. McGurk et al. report the genetic regulation of these complex structures across common and rare variants, revealing pathways ...
www.nature.com
November 20, 2024 at 10:31 AM
Exciting first bluesky post! We estimated trabecular complexity in 50,000 UK Biobank participants to identify influencing genetic, clinical, and lifestyle factors. Trabeculation progresses with cardiac diseases and changes can occur early in pathogenesis.