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In Brief The authors report a genome-wide association study (GWAS) on Type 2 diabetes (T2D), including data from 2 535 601 individuals (39.7% non-European ancestry), including 428 452 with T2D. They identify 1,289 independent GWAS signals (at P < 5×10−8), of which 145 loci are novel. These genetic signals cluster into 8 groups, with differing cardiometabolic trait associations and differing cell-specific profiles of gene activation (open chro...

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ey0015.14-10 | CRISPR-Cas9 gene therapy | ESPEYB15

14.10 Correction of a pathogenic gene mutation in human embryos

H Ma , N Marti-Gutierrez , SW Park , J Wu , Y Lee , K Suzuki , A Koski , D Ji , T Hayama , R Ahmed , H Darby , C Van Dyken , Y Li , E Kang , AR Park , D Kim , ST Kim , J Gong , Y Gu , X Xu , D Battaglia , SA Krieg , DM Lee , DH Wu , DP Wolf , SB Heitner , JCI Belmonte , P Amato , JS Kim , S Kaul , S Mitalipov

To read the full abstract: Nature 2017;548:413-419Over recent years, the Yearbook has followed the rapid advances in CRISPR-Cas9 gene editing technology, initially as a widely adopted research tool, but also as an emerging form of gene therapy. Here, Ma et al. report the first use of CRISPR–Cas9 to efficiently and safely correct a pathogenic heterozygous mutation in human embryos. The...

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ESPE Yearbook of Paediatric Endocrinology

15.15. Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

14.10 Correction of a pathogenic gene mutation in human embryos

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