Connie Bezzina
@conniebezzina.bsky.social
Reposted by Connie Bezzina
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...
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...
www.thetimes.com
March 2, 2025 at 12:06 PM
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...
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
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
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.
tinyurl.com
March 1, 2025 at 12:12 PM
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
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
Reposted by Connie Bezzina
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...
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...
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…
www.sciencedirect.com
February 18, 2025 at 6:14 AM
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...
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...
Reposted by Connie Bezzina
🚨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
📍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
www.nature.com
February 18, 2025 at 12:19 PM
🚨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
📍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
Reposted by Connie Bezzina
📣📣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
A comment @natrevgenet.bsky.social from @katholt.bsky.social and me
February 13, 2025 at 9:10 AM
📣📣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
A comment @natrevgenet.bsky.social from @katholt.bsky.social and me
Reposted by Connie Bezzina
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/...
www.ahajournals.org/doi/10.1161/...
American Heart Association Journals
www.ahajournals.org
February 14, 2025 at 2:44 PM
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/...
www.ahajournals.org/doi/10.1161/...
Reposted by Connie Bezzina
Fascinating study on a TTN enhancer.
A MEF2-disrupting rare variant located in an intronic enhancer causing cardiac disease?
TTN 🤝 SCN5A
A MEF2-disrupting rare variant located in an intronic enhancer causing cardiac disease?
TTN 🤝 SCN5A
December 19, 2024 at 8:00 PM
Fascinating study on a TTN enhancer.
A MEF2-disrupting rare variant located in an intronic enhancer causing cardiac disease?
TTN 🤝 SCN5A
A MEF2-disrupting rare variant located in an intronic enhancer causing cardiac disease?
TTN 🤝 SCN5A
Reposted by Connie Bezzina
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 🧬
December 16, 2024 at 5:23 PM
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 🧬
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...
One of the first papers emerging from DCM-NEXT EiC Pathfinder consortium (dcm-next.eu)
www.nature.com/articles/s41...
November 21, 2024 at 4:22 PM
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...
One of the first papers emerging from DCM-NEXT EiC Pathfinder consortium (dcm-next.eu)
www.nature.com/articles/s41...