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Positive remodeling at 3 year follow up is associated with plaque-free coronary wall segment at baseline: a serial IVUS study Left Ventricular Hypertrophy and Clinical Outcomes Over 5 Years After TAVR: An Analysis of the PARTNER Trials and Registries Defining a new standard for IVUS optimized drug eluting stent implantation: the PRAVIO study Effect of the PCSK9 Inhibitor Evolocumab on Total Cardiovascular Events in Patients With Cardiovascular DiseaseA Prespecified Analysis From the FOURIER Trial Two-year outcomes following unprotected left main stenting with first vs new-generation drug-eluting stents: the FINE registry. EuroIntervention. The Year in Cardiovascular Medicine 2020: Coronary Prevention: Looking back on the Year in Cardiovascular Medicine for 2020 in the field of coronary prevention is Professor Ramon Estruch, Dr Luis Ruilope, and Professor Francesco Cosentino. Mark Nicholls meets them Intravascular ultrasound predictors of angiographic restenosis after sirolimus-eluting stent implantation Risk of Coronary Obstruction and Feasibility of Coronary Access After Repeat Transcatheter Aortic Valve Replacement With the Self-Expanding Evolut Valve: A Computed Tomography Simulation Study A Prospective, Multicenter, Randomized, Open-label Trial to Compare Efficacy and Safety of Clopidogrel vs. Ticagrelor in Stabilized Patients with Acute Myocardial Infarction after Percutan eous Coronary Intervention: rationale and design of the TALOS-AMI trial Impact of Intravascular Ultrasound on Long-Term Clinical Outcomes in Patients With Acute Myocardial Infarction

Original Research2017 Aug 24;548(7668):413-419.

JOURNAL:Nature. Article Link

Correction of a pathogenic gene mutation in human embryos

Ma H, Marti-Gutierrez N, Mitalipov S et al. Keywords: genome editing; MYBPC3 mutation; inherited hypertrophic cardiomyopathy

ABSTRACT

Genome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the heterozygous MYBPC3 mutation in human preimplantation embryos with precise CRISPR-Cas9-based targeting accuracy and high homology-directed repair efficiency by activating an endogenous, germline-specific DNA repair response. Induced double-strand breaks (DSBs) at the mutant paternal allele were predominantly repaired using the homologous wild-type maternal gene instead of a synthetic DNA template. By modulating the cell cycle stage at which the DSB was induced, we were able to avoid mosaicism in cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene without evidence of off-target mutations. The efficiency, accuracy and safety of the approach presented suggest that it has potential to be used for the correction of heritable mutations in human embryos by complementing preimplantation genetic diagnosis. However, much remains to be considered before clinical applications, including the reproducibility of the technique with other heterozygous mutations.