iiinova — where your digital self keeps evolving

Reposted by Connie Bezzina

Nicky Whiffin @nickywhiffin.bsky.social · 02/03/2025

A few weeks ago, I had an incredibly emotional call with James Coney, a writer for the Sunday Times whose son Charlie was in the @genomicsengland.bsky.social 100k project and was recently diagnosed with ReNU syndrome. This beautiful article tells their story ❤️ www.thetimes.com/article/0bcc...

thetimes.com

My son Charlie — and the breakthrough that changed our lives

James Coney and his wife, Sarah, struggled not knowing why their 12-year-old was born with a severe learning disability. In their darkest moments, they blamed themselves. Then, out of the blue, came a...

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Connie Bezzina @conniebezzina.bsky.social · 01/03/2025

Pls retweet: ‼️ Skilled in bioinformatics? ⁉️ Join our cardiogenomics team @ AmsterdamUMC in lovely Amsterdam 🌷🌷 We have a vacancy for bioinformatician with prospect of permanent appointment. Info 👉🏻 werkenbij.amsterdamumc.org/en/vacatures... More about us and our approach here 👉🏻 tinyurl.com/5brcsazv

tinyurl.com

Cardiogenetics Amsterdam

In Amsterdam UMC researchers and clinicians team up in (inter)national studies to increase our understanding of genetic heart diseases, and apply new insights in clinical practice, and thereby provide the best care to our patients.

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Reposted by Connie Bezzina

Jodie Ingles @jodieingles27.bsky.social · 18/02/2025

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...

sciencedirect.com

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…

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Reposted by Connie Bezzina

Sean @seanlzheng.bsky.social · 18/02/2025

🚨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

nature.com

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Reposted by Connie Bezzina

Mike Inouye @mikeinouye.bsky.social · 13/02/2025

📣📣Genomic data sharing: you don’t know what you’ve got (till it’s gone) www.nature.com/articles/s41... A comment @natrevgenet.bsky.social from @katholt.bsky.social and me

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Reposted by Connie Bezzina

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · 14/02/2025

Fascinating study on the prevalence of TRIM63 variants in HCM in a multi-ethnic cohort from Israel - biallelic variants in 4.7% of cases (= 18.5% of all P/LP cases). Additionally, monoallelic variants in 6.5% of HCM cases (OR=7.2 compared to controls). www.ahajournals.org/doi/10.1161/...

ahajournals.org

American Heart Association Journals

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Reposted by Connie Bezzina

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · 19/12/2024

Fascinating study on a TTN enhancer. A MEF2-disrupting rare variant located in an intronic enhancer causing cardiac disease? TTN 🤝 SCN5A

media.tenor.com

a cartoon of two spidermans standing in front of a nypd van

ALT: a cartoon of two spidermans standing in front of a nypd van

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Reposted by Connie Bezzina

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · 16/12/2024

Interesting case study of a homozygous PLN variant (p.L39*) in a patient with severe DCM requiring HTx (het parents had LV hypertrophy). onlinelibrary.wiley.com/doi/10.1111/... Just the third such case reported (AFAIK) - PLN has very complex geno-pheno associations... #cardiogen #cardiosky 🧬

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Connie Bezzina @conniebezzina.bsky.social · 21/11/2024

DCM GWAS is trending! Happy to share our DCM GWAS published today. An effort spearheaded by Sean Jurgens and with the generous collaboration of many colleagues. One of the first papers emerging from DCM-NEXT EiC Pathfinder consortium (dcm-next.eu) www.nature.com/articles/s41...

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