A new study has found that the protein ACE2 may play a protective role against two common conditions, high blood pressure and type-2 diabetes, which affect millions of people worldwide. The study was led by @kathrynmcgurk.bsky.social at the LMS and @imperialnhli.bsky.social

Double representation from @cvgenomics.bsky.social 💪 ( @jamesware.bsky.social ) 🧬 🫀

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

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 🍝

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...

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/

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...

💡 #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

🫀🧬 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...

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

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...

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

🫀 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/...

Two very nice papers in cardiovascular genetics in two days. The first examines myocardial trabeculation: www.nature.com/articles/s44...

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

🧬 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 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 🧪

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.