Cara Barnett
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carbar31.bsky.social
Cara Barnett
@carbar31.bsky.social
PhD student, Genetic Counselor, and Cardiovascular Genetics Fan 🧬 Views are my own (she/her)
Reposted by Cara Barnett
gVasc is a research study trying to find out if there are genetic factors behind why SCAD happens🫀Click the link in our bio or head to gvascstudy.org to learn more about our study and to participate! #gvasc #SCAD #research #heart #hearthealth #heartresearch #scadalliance @scadalliance.bsky.social
August 12, 2025 at 2:54 PM
Reposted by Cara Barnett
🫀🧬 My friend Matteo Vatta led this work, and I was honored to collaborate on this project. M-band variants, traditionally linked to neuromuscular disease, show enrichement in cardiomyopathy and arrhythmia, particularly in exon 358: www.ahajournals.org/doi/10.1161/...)
Analysis of TTN Truncating Variants in >74 000 Cases Reveals New Clinically Relevant Gene Regions | Circulation: Genomic and Precision Medicine
BACKGROUND: Truncating variants (TTNtvs) in the titin (TTN) gene have been associated with cardiomyopathies or arrhythmias (C/A) and autosomal recessive neuromuscular diseases (NM). However, the clini...
www.ahajournals.org
February 19, 2025 at 5:14 PM