Circulation: Genomic and Precision Medicine @Circ_Gen
We seek studies in genomics and precision medicine with relevance to human CV biology. RT/follows do not imply endorsement ahajournals.org/journal/circgen Joined November 2017-
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As part of our #cardioinformatics series: @IrisJaffeLab + team: Development and Implementation of an Integrated Preclinical Atherosclerosis Database ahajournals.org/doi/10.1161/CI… @AHAScience #AHAjournals #CardioTwitter #Genetics 📽️@hj_tadros
From Souter + Benn + team: Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States ahajournals.org/doi/10.1161/CI… @AHAScience #AHAjournals #CardioTwitter #Genetics @NateraGenetics 📽️@hj_tadros
From Krysov + @vnparikh + team: Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy ahajournals.org/doi/abs/10.116… @AHAScience #AHAjournals #CardioTwitter #Genetics @euanashley 📽️@hj_tadros
Curious about JAHA? Come meet Associate Editor Tiffany Powell-Wiley at #EPILifestyle24! Tuesday, March 19, from 5-6pm CDT at the Hilton Chicago (Room: Astoria, 3rd floor). We'll see you there! #ahajournals
🔴 Imagenetics for Precision Medicine in Dilated Cardiomyopathy @CircAHA #CardioEd #Cardiology
📰Check out our latest paper about RRAGD, a new gene to consider in DCM with AD inheritance🧬 @Circ_Gen @hbellvitge
I think the field needs more of these kinds of studies - canvassing the impact of many variants, many previously unknown, to determine the influence on heritable CV disease. @Circ_Gen @AHAScience #HCM @4hcm #CardioTwitter
From Ravi Shah + @ryden_mikael + @venkmurthy + team: Targeted proteomics reveals functional targets for early diabetes susceptibility in young adults ahajournals.org/doi/abs/10.116… @AHAScience #AHAjournals #CardioTwitter #Genetics 📽️@hj_tadros 🎙️@AnwarChahal @SharafGhaith
From @COpbergen @MarioDelmar3 @marina_cerrone + team: AAV-Mediated Delivery of PKP2a Arrests Progression of ARVC in Murine Hearts: Preclinical Evidence Supporting Gene Therapy in Humans ahajournals.org/doi/abs/10.116… @AHAScience #AHAjournals #CardioTwitter #Genetics 📽️@hj_tadros
Very proud to see our paper on #genetherapy in #PKP2 #ARVC online @Circ_Gen. A great collaboration and new hopes for #arrhythmias and #cardiomyopathy. @MarioDelmar3 @COpbergen @nyulangone @NYULHCVRC @nyugrossman
From Hasbani + de Vries+ team: Type 2 Diabetes Modifies the Association of CAD Genomic Risk Variants With Subclinical Atherosclerosis ahajournals.org/doi/10.1161/CI… @AHAScience #AHAjournals #CardioTwitter #Genetics @VibhuParcha
A/Prof Jodie Ingles @jodieingles27
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Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases @Circ_Gen ahajournals.org/doi/abs/10.116…
🔴 Imagenetics for Precision Medicine in Dilated Cardiomyopathy @CircAHA #CardioEd #Cardiology
Imaging is often the first view we are offered of a patient with cardiomyopathy. Using this critical diagnostic test to focus attention on specific genetic loci is important. Imagenetics! @Circ_Gen @AHAScience
📰Check out our latest paper about RRAGD, a new gene to consider in DCM with AD inheritance🧬 @Circ_Gen @hbellvitge
Evidence that the genetic ancestral background of #iPSCs, and the cardiac myocytes derived from them, is an important biological variable to take into consideration when using these cells as models for cardiac disease. Congrats to @Circ_Gen @marieguerraty @kiranmusunuru
I think the field needs more of these kinds of studies - canvassing the impact of many variants, many previously unknown, to determine the influence on heritable CV disease. @Circ_Gen @AHAScience #HCM @4hcm #CardioTwitter
@Circ_Gen @COpbergen @marina_cerrone @AHAScience @hj_tadros Awesome animation and summary!!!!
Extremely proud of this work, in collaboration with Rocket Pharma: preclinical, IND-enabling demonstration of gene replacement therapy in a model of PKP2 deficiency. Relevant to arrhythmogenic cardiomyopathy. Available in PubMed!! PMID: 38288614 And in: ahajournals.org/doi/10.1161/CI…
Very excited to see our latest paper on #genetherapy for #PKP2 #ARVC published in @Circ_Gen! 🫀🧬 Great collaboration with @RocketPharma! @marina_cerrone @NYULHCVRC @nyugrossman ahajournals.org/doi/10.1161/CI…
Extremely proud of this work, in collaboration with Rocket Pharma: preclinical, IND-enabling demonstration of gene replacement therapy in a model of PKP2 deficiency. Relevant to arrhythmogenic cardiomyopathy. Available in PubMed!! PMID: 38288614 And in: ahajournals.org/doi/10.1161/CI…
Very proud to see our paper on #genetherapy in #PKP2 #ARVC online @Circ_Gen. A great collaboration and new hopes for #arrhythmias and #cardiomyopathy. @MarioDelmar3 @COpbergen @nyulangone @NYULHCVRC @nyugrossman
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy @Circ_Gen ahajournals.org/doi/10.1161/CI…
Human genetic study concludes that individuals of European or East Asian ancestry are anticipated to generally have similar ASCVD benefit from HMGCR or PCSK9 inhibition ahajournals.org/doi/abs/10.116… @Circ_Gen
1.1% of #patients w/ #cardiomyopathy received #germline #genetictesting despite >298K #patients being eligible per guidelines rec #universal testing. Of #patients w/ positive tests, >90% had actionable results. #access #germlinetesting #reducedisparitie #precisionmedicine…
From @AnaMoralesCGC + Murillo + team: Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy ahajournals.org/doi/abs/10.116… @AHAScience #AHAjournals #CardioTwitter #Genetics
Great work @AnaMoralesCGC. This is not news to those of us @SADSFoundation who talk w/patients every day but it is shocking and unacceptable in the care of people with cardiomyopathies.
From @AnaMoralesCGC + Murillo + team: Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy ahajournals.org/doi/abs/10.116… @AHAScience #AHAjournals #CardioTwitter #Genetics
Funding research is a cornerstone of the AHA’s lifesaving mission and a key to our future. We’re continually adding new programs for timely, mission-related cardiovascular and neurovascular research. See the latest opportunities at spr.ly/6014uKzIE
ATTRibute-CM trial: In patients with transthyretin amyloid cardiomyopathy, the receipt of acoramidis resulted in a significantly better four-step primary hierarchical outcome containing components of mortality, morbidity, and function than placebo. nej.md/48tEoTH
Out in @Circ_Gen: An excellent look at phenotype, outcomes, and response to therapy in patients with NEXN-encoded nexilin variants. Predominantly associated with DCM (infant onset disease of homozygous/compound heterozygous) with some developing HCM and sudden death @AHAScience
From @ahermidaj+ Ader + team: NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis ahajournals.org/doi/abs/10.116… @AHAScience #AHAjournals #CardioTwitter #Genetics 📽️@hj_tadros 🎙️@AnwarChahal
Topline results #HCM #CardioTwitter
Amazing effort by patients, coordinators, PIs, sponsor et al. 282 patients with obstructive #HCM #aficamten vs #placebo Topline results tomorrow #CardioTwitter