Genetics
Detection of SARS-CoV-2 with a CRISPR-based test
17 Sep, 2020 | 09:38h | UTCDetection of SARS-CoV-2 with a CRISPR-Based Test – New England Journal of Medicine
The coronavirus is mutating — does it matter?
9 Sep, 2020 | 09:35h | UTCThe coronavirus is mutating — does it matter? – Nature
[Abstract Only] Randomized trial: Once-daily, subcutaneous vosoritide therapy in children with achondroplasia
8 Sep, 2020 | 01:06h | UTC
Commentary on Twitter
NEW Research—Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial https://t.co/LbknV5D2yL pic.twitter.com/KQvRoC58pb
— The Lancet (@TheLancet) September 7, 2020
Guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia
8 Sep, 2020 | 00:59h | UTC
International consensus recommendations on the diagnostic work-up for malformations of cortical development
8 Sep, 2020 | 00:58h | UTC
‘CRISPR babies’ are still too risky, says influential panel
6 Sep, 2020 | 21:25h | UTC‘CRISPR babies’ are still too risky, says influential panel – Nature
COVID-19 and mRNA vaccines—first large test for a new approach
4 Sep, 2020 | 02:08h | UTCCOVID-19 and mRNA Vaccines—First Large Test for a New Approach – JAMA
Effects of a major deletion in the SARS-CoV-2 genome on the severity of infection and the inflammatory response
20 Aug, 2020 | 09:28h | UTC
Commentary on Twitter
NEW Research—Effects of a major deletion in the SARS-CoV-2 genome on the severity of infection and the inflammatory response: an observational cohort study
"The ∆382 variant of SARS-CoV-2 seems to be associated with a milder infection" https://t.co/D17675hk9i pic.twitter.com/LvrIQolaXD
— The Lancet (@TheLancet) August 19, 2020
Presence of genetic variants among young men with severe COVID-19
27 Jul, 2020 | 10:04h | UTCPresence of Genetic Variants Among Young Men With Severe COVID-19 – JAMA
Editorial: Molecular Underpinnings of Severe Coronavirus Disease 2019
Commentary: Genetic mutations predispose individuals to severe COVID-19 – Radboud University
AHA scientific statement: Genetic testing for inherited cardiovascular diseases
27 Jul, 2020 | 09:28h | UTCNews Release: Genetic testing for heart diseases may help patients and families identify risks – American Heart Association
Randomized Trial: Cancer Prevention with Aspirin in Hereditary Colorectal Cancer (Lynch syndrome)
12 Jun, 2020 | 09:04h | UTCInvited Commentary: Aspirin for Lynch syndrome: a legacy of prevention – The Lancet
Guidelines for the Management of Hereditary Colorectal Cancer
16 Apr, 2020 | 02:28h | UTC
[Abstract Only] Study: Selumetinib in Children with Inoperable Plexiform Neurofibromas
23 Mar, 2020 | 00:49h | UTCSelumetinib in Children with Inoperable Plexiform Neurofibromas – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: In NIH trial, selumetinib shrinks tumors, provides clinical benefit for children with NF1 – NIH News Releases (free)
Review: α1-Antitrypsin Deficiency and Chronic Respiratory Disorders
23 Feb, 2020 | 21:16h | UTCα1-Antitrypsin deficiency and chronic respiratory disorders – European Respiratory Review (free)
Studies: Little Benefit from Polygenic Risk Score vs. Clinical Risk Score for Predicting Cardiovascular Risk
19 Feb, 2020 | 10:19h | UTCPredictive Accuracy of a Polygenic Risk Score Compared with a Clinical Risk Score for Incident Coronary Heart Disease – JAMA (free for a limited period)
Related Study: Predictive Accuracy of a Polygenic Risk Score–Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease – JAMA (free for a limited period)
Editorial: Do Polygenic Risk Scores Improve Patient Selection for Prevention of Coronary Artery Disease? (free)
Commentary: Gene tests for heart disease risk have limited benefit – Imperial College London (free)
Perspective: Step Aside CRISPR, RNA Editing is Taking Off
11 Feb, 2020 | 01:55h | UTCStep aside CRISPR, RNA editing is taking off – Nature (free)
Global Genomics Project Unravels Cancer’s Complexity at Unprecedented Scale
6 Feb, 2020 | 02:08h | UTCGlobal genomics project unravels cancer’s complexity at unprecedented scale – Nature (free)
Editorial: The era of massive cancer sequencing projects has reached a turning point – Nature (free)
Commentaries: Landmark study to transform cancer treatment – BBC (free) AND Diving deep in the genomes of cancer – eCancer News (free)
See Articles:
– Pan-cancer analysis of whole genomes – Nature (free)
– Analyses of non-coding somatic drivers in 2,658 cancer whole genomes – Nature (free)
– The repertoire of mutational signatures in human cancer – Nature (free)
– Patterns of somatic structural variation in human cancer genomes – Nature (free)
– The evolutionary history of 2,658 cancers – Nature (free)
– Genomic basis for RNA alterations in cancer – Nature (free)
BSH Guideline: Laboratory Diagnosis of G6PD Deficiency
30 Jan, 2020 | 07:36h | UTC
[Abstract Only] Study: Long-term Follow Up of Gene Therapy for Hemophilia A
8 Jan, 2020 | 00:52h | UTCMultiyear Follow-up of AAV5-hFVIII-SQ Gene Therapy for Hemophilia A – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: Study shows safety, long-term beneficial impact of gene therapy for patients with Hemophilia A – Queen Mary University of London (free)
Guidelines for the Management of Hereditary Colorectal Cancer
4 Dec, 2019 | 08:28h | UTCRelated Guidelines: Clinical Practice Guideline on Screening for Colorectal Cancer in Individuals With a Family History of Nonhereditary Colorectal Cancer or Adenoma: The Canadian Association of Gastroenterology Banff Consensus – Gastroenterology (free) AND Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline – Endoscopy (free)
[Abstract Only] Study: Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry
8 Nov, 2019 | 06:42h | UTCDistinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry – Journal of the American College of Cardiology (link to abstract – $ for full-text)
Commentaries: World’s most comprehensive study of a deadly heart condition yields 1st results – University of Virginia Health System (free) AND Hypertrophic Cardiomyopathy Registry Subgroups – American College of Cardiology (free)
Related Commentary on Twitter
Are there subgroups in the hypertrophic #cardiomyopathy population? New #JACC study looks at #cvImaging characteristics using data from the HCMR registry. https://t.co/hImlr841RB @ChrisKramerMD @CardioUva pic.twitter.com/JyLlRh6uP9
— JACC Journals (@JACCJournals) November 6, 2019
[Abstract Only] Randomized Trial: Triple Therapy Effective for the Treatment of Cystic Fibrosis
1 Nov, 2019 | 10:22h | UTCElexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele – New England Journal of Medicine (link to abstract – $ for full-text)
Editorial: Realizing the Dream of Molecularly Targeted Therapies for Cystic Fibrosis (free)
Related Research: Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial – The Lancet (link to abstract – $ for full-text)
Commentary: Three-drug combo improves lung function in most common genetic form of cystic fibrosis – UT Southwestern Medical Center (free)
Related Commentary on Twitter
Triple treatment of CF patients with one Phe508del allele and one minimal function allele with elexacaftor, tezacaftor and ivacaftor resulted in sustained improvement in FEV1, sweat chloride, and the number of pulmonary exacerbations. #NACFC https://t.co/ATeGlBUWCp
— NEJM (@NEJM) October 31, 2019
Study: Pan-cancer Whole-genome Analyses of Metastatic Solid Tumors
25 Oct, 2019 | 08:41h | UTCPan-cancer whole-genome analyses of metastatic solid tumours – Nature (free)
Commentaries: Huge whole-genome study of human metastatic cancers – Nature (free) AND Whole-genome study of metastatic tumors provides a catalog of genetic features of metastatic cancer – MedicalXpress (free)
[Abstract Only] Super-precise New CRISPR Tool Could Tackle a Plethora of Genetic Diseases
22 Oct, 2019 | 08:03h | UTCSuper-precise new CRISPR tool could tackle a plethora of genetic diseases – Nature News (free)
Original Article: Search-and-replace genome editing without double-strand breaks or donor DNA – Nature (link to abstract – $ for full-text)
See also: New CRISPR genome editing system offers a wide range of versatility in human cells – Broad Institute of MIT and Harvard (free) AND Prime editing: DNA tool could correct 89% of genetic defects – BBC (free) AND New CRISPR tool has the potential to correct almost all disease-causing DNA glitches, scientists report – STAT (free)
Related: Simple guide to CRISPR, one of the biggest science stories of the decade – VOX (free)
Systematic Review of Guidelines: Non-pharmacological Interventions for Osteoporosis Treatment
14 Oct, 2019 | 08:32h | UTC