A new autosomal recessive cause of arrhythmic cardiomyopathy - variants in TAX1BP3. Published in Circ Res today!

URL: www.ahajournals.org/eprint/RCVCU...

@ahascience.bsky.social @ahajournals.bsky.social #cardiosky #genetics #medsky #cardiogen

Congratulations to @manasa-gurumoorthi.bsky.social for an incredible peds cards match! Thank you for everything you have taught us! Stanford is lucky to get you! #match #cardiosky #medsky @erd2.bsky.social

As threatening as they come

Don’t let the puppy distract you. We’ve had Christmas lights up since Nov 1. No apologies

Thanks for the wonderful visit @n-bouatia-naji.bsky.social! It’s a long way to come from Inserm via #AHA24. From the science to the mentorship to the collaborations!

@ahascience.bsky.social @erd2.bsky.social #CardioSky #medsky

Nabila Bouatia-Naji giving the Victor Dzau Seminar Series at Duke. Tackling complex genetic cardiovascular diseases through genomics and multi-omics! @n-bouatia-naji.bsky.social @ahascience.bsky.social #medsky #cardiosky

A landmark gene therapy study! Out today with NEJM

AAV mediated gene replacement of LAMP2 in boys with Danon disease Phase 1 trial demonstrates a reasonable safety profile

www.nejm.org/doi/pdf/10.1...

This is a big deal

#cardiosky #medsky #genetherapy #Dana at #AHA24 @ahascience.bsky.social

Nothing says lab reunion drinks like an English pub with a Christmas tree! Thanks to @lwilsbacher.bsky.social for a great recommendation! #AHA24 brought us all together! @manasa-gurumoorthi.bsky.social @ahascience.bsky.social #cardiosky #medsky

Saige Mitchell, Duke Med Student showing that children with single ventricle heart disease with a VUS on CMA do not have worse survival than children with a normal CMA (not so for syndromic/abnormal CMAs)

Rachel Wolfe, Duke Peds Resident and R38 awarded, fielding tough questions about the genetic causes (and terrible outcomes) of bileaflet mitral valve prolapse with mitral annular dysjunction

Meredith Srour, Duke Med Student presenting on the abnormal QT response to bradycardia clarifies the risk for short QT-caused cardiac arrest in patients with ATP1A3 variants

When cardiovascular genetics labs collide! Great to have a joint breakfast with Anwar Chahal and our respective teams at #AHA24 @ahascience.bsky.social

One of the best things about this job is the people - from amazing trainees to colleagues

#CardioSky #MedSky #cardiogen

She’s even cuter in a sweater

Meeting with neurologists and scientists in Barcelona about a gene, ATP1A3, which we have discovered is associated with short QT and rate dependent cardiac arrest. Mutations in the gene are classically associated with a rare neurological disease which has sudden death as a phenotype…

Excited to share this new Scientific Advisory doc from AHA on Gene Therapy for Cardiovascular Disease

A summary of mechanisms, delivery methods, future hurdles, and current trials (actually probably already out of date)

www.ahajournals.org/doi/10.1161/...

#AHA #CardioSky #cardiogen

When you’re supposed to be catching up on work, but the furry princess suggests other priorities

Written by an outstanding graduate student in the lab, Enya Dewars. I hope you all find this helpful!

The Genetic Basis of Sudden Cardiac Death: From Diagnosis to Emerging Genetic Therapies | Annual Reviews

www.annualreviews.org/content/jour...

I think my strategy here will be to draw people in with pictures of my dog