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Genetics

Guidelines for care of adults with Down Syndrome

21 Oct, 2020 | 09:14h | UTC

Medical Care of Adults With Down Syndrome: A Clinical Guideline – JAMA (free for a limited period)

Editorial: Guidelines for Care of Adults With Down Syndrome

 


WHO takes a position on genetically modified mosquitoes

21 Oct, 2020 | 09:02h | UTC

WHO takes a position on genetically modified mosquitoes – World Health Organization

Position Statement: Evaluation of genetically modified mosquitoes for the control of vector-borne diseases – World Health Organization

Commentary: WHO Releases a Position Statement on Genetically Modified Mosquitoes for the Control of Vector-Borne Diseases – Health Policy Watch

 


Detection of SARS-CoV-2 with a CRISPR-based test

17 Sep, 2020 | 09:38h | UTC

Detection 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 | UTC

The 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

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial – The Lancet

Commentary: New drug shown to improve bone growth in children with achondroplasia in global phase III trial – Murdoch Children’s Research Institute

 

Commentary on Twitter

 


Guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia

8 Sep, 2020 | 00:59h | UTC

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia – Annals of Internal Medicine

 


International consensus recommendations on the diagnostic work-up for malformations of cortical development

8 Sep, 2020 | 00:58h | UTC

International consensus recommendations on the diagnostic work-up for malformations of cortical development – Nature Reviews Neurology

 


‘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 | UTC

COVID-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

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 Lancet

 

Commentary on Twitter

 


Presence of genetic variants among young men with severe COVID-19

27 Jul, 2020 | 10:04h | UTC

Presence 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 | UTC

Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association – Circulation: Genomic and Precision Medicine

News 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 | UTC

Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial – The Lancet

Invited 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

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG) – Gut

 


[Abstract Only] Study: Selumetinib in Children with Inoperable Plexiform Neurofibromas

23 Mar, 2020 | 00:49h | UTC

Selumetinib 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 | UTC

α1-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 | UTC

Predictive 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 | UTC

Step aside CRISPR, RNA editing is taking off – Nature (free)

 


Global Genomics Project Unravels Cancer’s Complexity at Unprecedented Scale

6 Feb, 2020 | 02:08h | UTC

Global 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

Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline – British Journal of Haematology (free)

 


[Abstract Only] Study: Long-term Follow Up of Gene Therapy for Hemophilia A

8 Jan, 2020 | 00:52h | UTC

Multiyear 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 | UTC

Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)/Association of Coloproctology of Great Britain and Ireland (ACPGBI)/United Kingdom Cancer Genetics Group (UKCGG) – Gut (free)

Related 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 | UTC

Distinct 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

 


[Abstract Only] Randomized Trial: Triple Therapy Effective for the Treatment of Cystic Fibrosis

1 Nov, 2019 | 10:22h | UTC

Elexacaftor–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


Study: Pan-cancer Whole-genome Analyses of Metastatic Solid Tumors

25 Oct, 2019 | 08:41h | UTC

Pan-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)

 


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