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Connie Bezzina

@conniebezzina.bsky.social

2 Posts103 Follower47 Folgt
Nicky Whiffin@nickywhiffin.bsky.social · 2y ago

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...

thetimes.com

Connie Bezzina@conniebezzina.bsky.social · 2y ago

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

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

Jodie Ingles@jodieingles27.bsky.social · 2y ago

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...

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…

sciencedirect.com

Roddy Walsh 🇪🇺 🇺🇦@roddywalsh.bsky.social · 2y ago

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

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

media.tenor.com

Axel Visel@axelvisel.bsky.social · 2y ago

Titin is massive in size – at 3,800kD it’s the largest protein in your body and really important for heart function. In a new paper, led by Yuri Kim and the Seidman lab, we describe an enhancer critical for normal Titin expression. Here is the overview (1/n) Paper: www.jci.org/articles/vie...

A cartoon illustration of an anthropomorphic titin protein as a massive, muscular figure wearing a lab coat, glasses, and a red tie, flexing its biceps confidently. To the left, there is a text box titled "TITIN" that says: "Look at this absolute unit of a protein (appearance as hallucinated by AI): 3,800 kD, ~0.4 kg of your body, critical for heart function, mutations: most common genetic cause of heart failure." The background includes a colorful DNA helix, and a smaller version of the character appears at the bottom left.