Join us for our virtual #GEInnovation21 event (29 Sep) discussing key factors impacting the future of #genomichealthcare. Sessions address awareness of #genetics and the challenges of #data #diversity, #cancer, #COVID19, #newbornscreening & NHS Genomic Medicine Service. gelinnovationshowcase21.splashthat.com

National NL collaborative efforts to tackle sudden cardiac death. Discussions spanning genetic, clinical and mechanistic studies in inherited cardiac disorders during the CVON-PREDICT2 consortium meeting. Carol Ann Remme J.Peter van Tintelen Rudolf de Boer Jeroen Bakkers Prof. Arthur Wilde

Congratulations to Roddy Walsh 🇪🇺 🇺🇦, Joost Offerhaus, Rafik Tadros, and Connie Bezzina upon the recent Nature Reviews Cardiology review article focussed around the several non-sarcomeric protein-encoding genes that account for <10% of pathogenic variants in hypertrophic cardiomyopathy patients

If you missed our #GEinnovation21 session on how we are partnering to build the world's most advanced #genomichealthcare system, catch up and see @chris_wigley, Prof Dame Professor Dame Sue Hill and Dr Ellen Thomas discuss this game-changing project. Genomics Education NHS Genomic Medicine Service youtu.be/wMUm5WazMIU

De moeite van het terugkijken waard. Documentaire “Sudden Death; my sister’s silent killer” afgelopen woensdag bij BNNVARA . Over plotse dood (en erfelijkheid) op jonge leeftijd. Met oa Elijah Behr en Mary Noelle Sheppard bnnvara.nl/documentaires/…

"Genetic testing for Familial Hypercholesterolaemia – Past, Present and Future" ― From JLR's Thematic Review Series: the Science of FH UCL UCL News St George's, University of London (1752-2024) University of London Marta Futema #JLRReview #FamilialHypercholesterolemia jlr.org/article/S0022-…

Join in BHFCoREImperial's symposium tomorrow afternoon to hear from a variety of excellent speakers including Abbas Dehghan, Nicholas S Peters, Fu Siong Ng, Kathryn McGurk, and Fiona Reddington #BHF #OurFutureHealth #CVD #CardioTwitter

Insight into the southern Africa picture of #CongenitalHeartDisease subtypes compared to global estimates, from the PROTEA (partnerships in congenital heart disease in Africa) cohort established in 2017: bit.ly/3BkYbTR 🫀 #CHD #Researchpaper #Registry #Africa

Significant new developments in long-read #sequencing within our #Genomes100K Project mean that #clinicians have more tools to build a better, broader picture of many different #cancers & guide #patientcare. Oxford Nanopore Read more: genomicsengland.co.uk/nanopore-seque… youtu.be/nFVSk1nvq2o

Massive congratulations to our colleague Taariq Salie from University of Cape Town who had the highest ranking American Heart Association abstract from South Africa and has been named a Paul Dudley White International Scholar! 🎉🇿🇦

A world-first scientific study, published today in NEJM has shown that whole genome sequencing can uncover new diagnoses for people across the broadest range of #rarediseases investigated to date & could deliver enormous benefits across the @NHS. Queen Mary University of London genomicsengland.co.uk/100k-whole-gen…

Coverage of the rare disease pilot study by The @Guardian and how whole genome sequencing can actually save the @NHS millions of pounds. theguardian.com/science/2021/n…

1/ Excited to share our latest study on the association of cardiometabolic #miRNAs with #COVID19 severity and mortality published in #Cardiovascular_Research🎉 doi.org/10.1093/cvr/cv…

Check out this work by Seema Mital and Áine Lynch finding Transplant-free survival in RAS-HCM is lower in RAS-HCM than primary hypertrophic cardiomyopathy

Pair of Science Translational Medicine studies imply that TTN truncating variants may contribute to DCM through both haploinsufficiency as well as accumulation of toxic titin truncated peptides science.org/doi/10.1126/sc… science.org/doi/10.1126/sc… (summarized nature.com/articles/s4156… Nature Reviews Cardiology)

Very excited to talk about my research group's work at the Oxford Nanopore community meeting on DNA and RNA modifications. It is a remarkably rich and "for free" gain of nanopore sequencing.

Great to be at the Royal Institution today for the MRC Laboratory of Medical Sciences (LMS) retreat! Doing a flash talk later in the iconic lecture theatre Royal Institution (now on Bluesky) @pie_laine Selene Pirola Mit Shah Ben Statton Declan O'Regan James Ware

Congratulations to Keavney Lab upon their high-impact Scientific Reports paper. The study demonstrates that, in addition to CTCF and cohesin, non-coding RNAs - such as STX18-AS1 - play a role in modifying the promoter interactome; specifically, in this case, boosting gene expression.

Our congratulations to Robert Lesurf and Seema Mital of the Cardiovascular domain GeCIP Cardiovascular Domain for their publication: "Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy" in npj Journals! ❤️‍🩹🎉📰 sickkids.ca/en/news/archiv…

#GECIP publications this week include this paper by GECIP member Katie Joyce and domain lead Claire Shovlin. This study demonstrates the use of #WGS to detect variants commonly inherited in HHT that are not causal but do have clinically relevant phenotypes pubmed.ncbi.nlm.nih.gov/35316832/