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Genetics

How mRNA Technology Could Change the World

5 Apr, 2021 | 01:36h | UTC

How mRNA Technology Could Change the World – The Atlantic (a few articles per month are free)

 


RCT: Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1

5 Apr, 2021 | 01:01h | UTC

Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1 – New England Journal of Medicine (link to abstract – $ for full-text)

 


Another study indicates SARS-CoV-2 variant B.1.351, but not variant B.1.1.7, has partial resistance to neutralizing antibodies generated by natural infection or mRNA vaccination

28 Mar, 2021 | 22:53h | UTC

Sensitivity of infectious SARS-CoV-2 B.1.1.7 and B.1.351 variants to neutralizing antibodies – Nature Medicine

 

Commentaries on Twitter

 


Opinion | The Coronavirus Variants Don’t Seem to Be Highly Variable So Far

28 Mar, 2021 | 22:46h | UTC

The Coronavirus Variants Don’t Seem to Be Highly Variable So Far – Scientific American

 


70-gene signature as an aid for treatment decisions in early breast cancer: updated results of the phase 3 randomised MINDACT trial with an exploratory analysis by age

14 Mar, 2021 | 20:07h | UTC

70-gene signature as an aid for treatment decisions in early breast cancer: updated results of the phase 3 randomised MINDACT trial with an exploratory analysis by age – The Lancet Oncology (link to abstract – $ for full-text)

 


Position Statement: The Role of Pharmacogenomics in Contemporary Cardiovascular Therapy

11 Mar, 2021 | 07:53h | UTC

The Role of Pharmacogenomics in Contemporary Cardiovascular Therapy: A position statement from the European Society of Cardiology Working Group on Cardiovascular Pharmacotherapy – European Heart Journal – Cardiovascular Pharmacotherapy

 


Clinical practice guidelines for BRCA1 and BRCA2 genetic testing

21 Feb, 2021 | 21:43h | UTC

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing – European Journal of Cancer

 

Commentary on Twitter

 


BRUGADA-RISK: A primary prevention clinical risk score model for patients with Brugada Syndrome

18 Feb, 2021 | 02:57h | UTC

A Primary Prevention Clinical Risk Score Model for Patients With Brugada Syndrome (BRUGADA-RISK) – JACC: Clinical Electrophysiology

Commentary: Risk Score Model for Brugada Syndrome – American College of Cardiology

 


Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women

10 Feb, 2021 | 01:07h | UTC

Breast Cancer Risk Genes — Association Analysis in More than 113,000 Women – New England Journal of Medicine

Commentary: Protein-Truncating and Rare Missense Variants in Breast Cancer Risk Genes: Association With Disease Risk – The ASCO Post

 


A population-based study of genes previously implicated in breast cancer

10 Feb, 2021 | 01:05h | UTC

A Population-Based Study of Genes Previously Implicated in Breast Cancer – New England Journal of Medicine (link to abstract – $ for full-text)

 


Consensus recommendations: Diagnosis and management of Bartter syndrome

3 Feb, 2021 | 01:04h | UTC

Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders – Kidney International

 


How Covid-19 mutations are changing the pandemic

29 Jan, 2021 | 01:55h | UTC

How Covid-19 mutations are changing the pandemic – BBC

 


NCCN Guideline: Genetic/familial high-risk assessment: breast, ovarian, and pancreatic

14 Jan, 2021 | 01:28h | UTC

Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology – Journal of the National Comprehensive Cancer Network

 


New SARS-CoV-2 variants: increased transmissibility likely to cause more deaths and possibly a new wave of the disease

10 Jan, 2021 | 20:54h | UTC

 


Down syndrome tied to 10 times the risk of COVID-19 death

23 Oct, 2020 | 09:13h | UTC

Down syndrome tied to 10 times the risk of COVID-19 death – CIDRAP

Original study: COVID-19 Mortality Risk in Down Syndrome: Results From a Cohort Study Of 8 Million Adults – Annals of Internal Medicine

 


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

 


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