Last week we went to the Cardiomyopathy UK Midlands HCP Study Day to share what we’re doing with specialists from across the UK. Thank you to everyone who has been helping us to open up research to more people, and to all the Heart Hivers who have given up their time to take part in research ❤

🧬 New @emblebi.bsky.social service beta launched: Perturbation Catalogue 🔎 Browse genetic perturbation datasets 🧠 Train models 🧬 Interpret variant function 🧭 Explore gene dependencies Search, test APIs, suggest datasets, send feedback! 🔗 www.ebi.ac.uk/perturbation... Funded by @opentargets.org

A new study, published today in Nature, reveals the hidden benefits of weight loss on fat tissue. A better understanding of how weight loss leads to health improvements at a molecular level could help inform the development of therapies for diseases such as type 2 diabetes in the future.

Survey of hundreds of scientists’ work suggests that cutting off funding disrupts focus and reduces the novelty of research. #academicSky 🧪 www.nature.com/articles/d41...

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...

There's still time to apply for an Emerging Innovators Fellowship for scientists of Black heritage! If you’re ready to take the next step in your career and make an impact in the world of biomedical research, we encourage you to apply. Applications close 11 May 2025. Find out more 👇

🚨 New paper alert! 🚨 Using SHaRe registry data, we explored how clinical & genetic risk factors influence heart failure, arrhythmias, and mortality in men & women with HCM. This study, from my PhD, emphasises the need for sex-specific approaches to improve care. 📖 Read more: bit.ly/41vlF9r

🚨Our double header on genetics of hypertrophic #cardiomyopathy out today in @naturegenet.bsky.social 🧬 📍GWAS www.nature.com/articles/s41... 📍polygenic scores www.nature.com/articles/s41... A consortia effort by @jamesware.bsky.social Hugh Watkins @conniebezzina.bsky.social Rafik Tadros & Anuj Goel

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...

TWO STAR co-first authors did most of the heavy lifting on this: Sophie Hespe and Amber Waddell 🌟 🌟 And huge high five to our biocurators and experts @jamesware.bsky.social @roddywalsh.bsky.social @chloereuter.bsky.social @andrewlandstrom.bsky.social @anwarchahal.bsky.social +++

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

The long awaited European guidelines for the use of Polygenic score for primary prevention of cardiovascular diseases are out! It took > 10 years from the first results proposing its use as additional screening factor among patients with intermediate CVD risk academic.oup.com/eurheartj/ad...

Most cardiac arrests happen at home, and knowing CPR could save the life of someone you love. All you need is your phone and a cushion to learn CPR in just 15 minutes, for free with RevivR. Be ready for when it matters most. ❤️ Find out more about RevivR here: bit.ly/3E7D0fg:

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

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...

🚨🚨🚨 In collaboration with @pnatarajanmd.bsky.social we are excited to launch gVasc, a new biobank focused on the genetics of spontaneous coronary artery dissection (SCAD)! with a participant-facing enrollment portal, 👉 gvascstudy.org 👈

The prevalence for cardiomyopathies is also now displayed for genes associated with cardiac disorders @jamesware.bsky.social @kathrynmcgurk.bsky.social

Cardiac case/control cohort data, which demonstrates the confidence of cardiac gene-phenotype relationships associated with specific variant classes, has been updated; more variant classes e.g. canonical splice site variants @jamesware.bsky.social @kathrynmcgurk.bsky.social

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

DECIPHER version 11.29 has been released. See the new features at www.deciphergenomics.org #variantinterpretation

We’re hiring for Programme Leader Track positions! This is an outstanding opportunity to advance your career in a discovery science institute of world-leading excellence. Application deadline is 13 January 2025. lms.mrc.ac.uk/work/vacanci...

Are you a computational biologist, looking for a role in a diverse and collaborative team, and eager to help us understand genetic heart muscle diseases? Come and join us. Closing date 12th January...

Check out our @mrc-lms.bsky.social Programme Leader Track opportunities - open for Submission of applications until 13/01/2025, interviews for shortlisted candidates in March lms.mrc.ac.uk/wp-content/u... #scisky #medsky

We’re delighted to share our recruitment brochure for our current Programme Leader Track vacancies at the MRC Laboratory of Medical Sciences. You can download the brochure on our vacancy web page 👇 lms.mrc.ac.uk/work/vacanci...

Fantastic opportunity of funded research position for clinician scientists in training (predoctoral fellowships). Come and see why the LMS is a fun and rewarding place to do science...

The deadline to apply for our PhD studentships is fast approaching! If you’d like to study a PhD at the LMS make sure to get your applications in by the 6th of December! If our world class science isn't convincing enough, then hear what our students have to say lms.mrc.ac.uk/work-and-stu...

#ParentalLeave is an important part of the journey towards #GenderEquity at the workplace, which is why the LMS supports those on parental leave through our #RovingResearchers www.nature.com/articles/d41...

The @mrc-lms.bsky.social kicks off at the wonderful Royal Institution with talk on #teamscience by @wiebkearlt.bsky.social.

It turns out much needed huge international efforts on dilated cardiomyopathy are like buses: 🚌🚌 ... nature.com/articles/s41... nature.com/articles/s41... ... bsky.app/profile/conn... bsky.app/profile/sean... ... Look forward to plans to bring all this together...

It's nice to be able to kick off on bsky with this story from Sean & Albert - a partnership with Tom Lumbers and the Hermes consortium to tackle the genetics of DCM.

Hi. Noob skeeting/tweeting/posting here for first time. Finally transitioning to bsky for all the reasons… I lead a research group in London, UK, focused on cardiovascular genetics, and genome medicine more broadly. I look forward to connecting...

The preliminary #eshg25 program is online. Stellar line-up of invited speakers - full breadth of our amazing field. Grateful to a wonderful SPC @eshg that made this possible. See you all in Milan next year! 2025.eshg.org/programme-at...

I couldn't spot a starter pack for rare disease / clinical genomics, so I started one: go.bsky.app/SUWZ9Hw Very much a work in progress, and biased by who I have already found here, so please suggest people to add! Self-nominations encouraged. #ClinicalInformatics #genomics #bioinformatics 🖥️🧬

A landmark gene therapy study! Out today with NEJM AAV mediated gene replacement of LAMP2 in boys with Danon disease Phase 1 trial demonstrates a reasonable safety profile www.nejm.org/doi/pdf/10.1... This is a big deal #cardiosky #medsky #genetherapy #Dana at #AHA24 @ahascience.bsky.social

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.

Thank you - a handy starter tool...