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We report many proteins not predicted by the genetic code. They are stable & abundant O( 10³ ) copies / cell. Generative mechanisms include codon-anticodon mismatches & RNA modifications. Their abundance depends on codon frequency & protein stability. biorxiv.org/content/10.110…

Excited to see this new paper describing our real world experience of the first 50 patients with hypertrophic cardiomyopathy prescribed a cardiac myosin inhibitor at Stanford come out last week. Authors include the entire Stanford Center for Inherited Cardiovascular Disease team

Australia to completely ban the use of genetic information in life and disability insurance. A huge win for the genetic disease community, for research participants and researchers, and for Dr Jane Tiller and others who tirelessly campaigned for this change! abc.net.au/news/2024-09-1…

#JACCIMG #cvImaging pearl: LV "fat-bite" pattern on #whyCMR has a high specificity for diagnosis of arrhythmogenic right ventricular #cardiomyopathy. bit.ly/4e1Bo3U Babken Asatryan, MD, PhD Stefan Zimmerman #ARVC

High lipoprotein(a) [(Lp(a)] is a genetically determined, important risk factor for cardiovascular disease that should be (but isn't) routinely measured (at least once). There are 5 drugs that look highly effective for markedly lowering levels in clinical trials. This new

The latest on the APOE4 gene and #Alzheimer's disease, summarized so well Science Magazine by Jocelyn Kaiser open-access science.org/content/articl…

Impact of DCM-Causing Genetic Background on Long-Term Response to Cardiac Resynchronization Therapy JACC Journals jacc.org/doi/abs/10.101…

🧬NEW: Genetic counselors have a new CPT® Code: 96041 launching 2025! This is a positive step for our profession, ensuring we can serve as vital healthcare partners for providers and patients. 🧵(1/4)

Huge congrats to Dr Job Verdonschot for leading this great review of reproductive genetic testing options for inherited cardiac diseases 👏🏻 #cardiogen James Ware Neal Lakdawala Nature Reviews Cardiology

Well done, Dr Laura Yeates presenting on psychological support needs for families after sudden cardiac death of a young person - challenging clinicians to ask about coping and wellbeing the next family they see 💥 #APHRS2024 Australasian Society of Genetic Counsellors (ASGC)

Check out our paper “ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants”, out in Nature Communications! We developed a multiplexed splice assay and studied >200 candidate SCN5A splicing variants in iPS-cardiomyocytes.

From Dan Ye + Michael J. Ackerman MD,PhD: Clinical Utility of Protein Language Models in Resolution of VUSs in KCNQ1, KCNH2, and SCN5A Compared to Patch Clamp Functional Characterization ahajournals.org/doi/abs/10.116… AHA Science #AHAjournals #CardioTwitter #Genetics 🎥H.J. Tadros

What kinds of challenges and opportunities arise when genetic counselors are tasked with delivering rapid genomic testing for infants and children in an acute care setting? bit.ly/4eDPmc2 #GIMO Prof Zornitza Stark Dr Fiona Lynch, PhD MGenCouns Kirsten Boggs #GeneticCounseling #RapidGenomicTesting

One of the most promising areas for the application of AI in medicine is scaling specialty expertise. There simply aren't enough specialist doctors to care for everyone in need. We believe AI can help. As a first step towards that goal, we worked with the amazing Google medical

In a medical milestone, a customized base editor was developed, characterized in human and mouse cells, tested in mice, studied for safety in non-human primates, cleared by U.S. FDA for clinical trial use, manufactured as a complex with an LNP, and dosed into a baby with a severe,

Today in Science Magazine we report the development of a laboratory-evolved CRISPR-associated transposase (evoCAST) that supports therapeutically relevant levels of RNA-programmable gene insertion in human cells, a collaboration with Sternberg Lab. 1/13 drive.google.com/file/d/1I-UbCR…

Genotype-Specific Outcomes of Desmosomal Cardiomyopathies | Circulation I will come back to this work ahajournals.org/doi/10.1161/CI…

RT Francisco Martínez: Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy #RareDisease #Genetics #morbidgene cell.com/ajhg/fulltext/…

Gene therapy for cardiac arrhythmias An elegant review of a world-class CV genetics team Nature Reviews Cardiology doi.org/10.1038/s41569…

Mechanisms through which synonymous mutations can affect gene expression Zhang & Qian Nat Rev Gen nature.com/articles/s4157…