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14.8. Patient-customized oligonucleotide therapy for a rare genetic disease

J Kim , C Hu , C Moufawad El Achkar , LE Black , J Douville , A Larson , MK Pendergast , SF Goldkind , EA Lee , A Kuniholm , A Soucy , J Vaze , NR Belur , K Fredriksen , I Stojkovska , A Tsytsykova , M Armant , RL DiDonato , J Choi , L Cornelissen , LM Pereira , EF Augustine , CA Genetti , K Dies , B Barton , L Williams , BD Goodlett , BL Riley , A Pasternak , ER Berry , KA Pflock , S Chu , C Reed , K Tyndall , PB Agrawal , AH Beggs , PE Grant , DK Urion , RO Snyder , SE Waisbren , A Poduri , PJ Park , A Patterson , A Biffi , JR Mazzulli , O Bodamer , CB Berde , TW. Yu

To read the full abstract: N Engl J Med. 2019 Oct 24;381(17):1644-1652. doi: 10.1056/NEJMoa1813279.This remarkable case report - by authors from Boston Childrens Hospital and funded by Milas Miracle Foundation - describes the development and use of a patient-customised antisense oligonucleotide drug that was tailored specifically against the unique DNA sequence mutation in a 6-ye...

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ey0016.14-14 | (1) | ESPEYB16

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

J Lord , DJ McMullan , RY Eberhardt , G Rinck , SJ Hamilton , E Quinlan-Jones , E Prigmore , R Keelagher , SK Best , GK Carey , R Mellis , S Robart , IR Berry , KE Chandler , D Cilliers , L Cresswell , SL Edwards , C Gardiner , A Henderson , ST Holden , T Homfray , T Lester , RA Lewis , R Newbury-Ecob , K Prescott , OW Quarrell , SC Ramsden , E Roberts , D Tapon , MJ Tooley , PC Vasudevan , AP Weber , DG Wellesley , P Westwood , H White , M Parker , D Williams , L Jenkins , RH Scott , MD Kilby , LS Chitty , ME Hurles , ER Maher

To read the full abstract: Lancet 2019;393:747757. .This large prospective cohort study recruited from 34 UK fetal medicine units to evaluate the use of prenatal whole genome sequencing in 610 fetuses with a structural abnormality detected on antenatal ultrasound scanning and no chromosomal abnormality. Overall, a diagnostic genetic mutation ...

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ESPE Yearbook of Paediatric Endocrinology

14.8. Patient-customized oligonucleotide therapy for a rare genetic disease

14.14. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

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