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Genetics

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.

7 Oct, 2021 | 10:17h | UTC

Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice – Nephrology Dialysis Transplantation

 

Commentary on Twitter

 


RCT: Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.

28 Sep, 2021 | 09:05h | UTC

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial – JAMA Pediatrics

 

Commentaries on Twitter

 


Review | The next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology.

14 Sep, 2021 | 09:58h | UTC

The next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology – Nature Medicine

 

Commentary on Twitter

 


AHA Scientific Statement: Genetic testing for heritable cardiovascular diseases in pediatric patients.

6 Sep, 2021 | 10:33h | UTC

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

News release: Genetic testing in children for heart disorders should be family-centered, include counseling – American Heart Association

 

Commentary on Twitter

 


Cohort study: Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers.

20 Aug, 2021 | 08:39h | UTC

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study – American Journal of Obstetrics and Gynecology

 

Commentary on Twitter

 


Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.

5 Aug, 2021 | 08:33h | UTC

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls – New England Journal of Medicine

Visual abstract: Risdiplam-Treated Infants with Type 1 SMA vs. Historical Controls

 


Review: Tuberous sclerosis complex for the pulmonologist.

5 Aug, 2021 | 08:30h | UTC

Tuberous sclerosis complex for the pulmonologist – European Respiratory Review

 


Large genomic analysis has identified 13 new genomic regions associated with susceptibility and severity to Covid-19.

13 Jul, 2021 | 09:59h | UTC

Mapping the human genetic architecture of COVID-19 – Nature

Commentaries: The quest to find genes that drive severe COVID – Nature AND Gene hunters turn up new clues to help explain why Covid-19 hits some people so hard – STAT AND Large genomic analysis highlights COVID-19 risk factors – Broad Institute of MIT and Harvard AND A new study finds genetic variations in Covid patients that could point to better drug treatments. – The New York Times AND How your DNA may affect whether you get COVID-19 or become gravely ill – ScienceNews

 


WHO issues new recommendations on human genome editing for the advancement of public health.

13 Jul, 2021 | 09:42h | UTC

WHO issues new recommendations on human genome editing for the advancement of public health – World Health Organization

See reports:

Human genome editing: recommendations

Human genome editing: a framework for governance

Commentaries: New Global Recommendations for Human Genome Editing may Improve Use to Cure and Treat Diseases – Health Policy Watch AND WHO should lead on genome-editing policy, advisers say – Nature AND WHO Calls for Global Registry of Human Genome Editing – HealthDay AND Expert reaction to the WHO’s newly published recommendations and governance framework for human genome editing – Science Media Centre

 

Commentary on Twitter (thread – click for more)

 


Review: Advances in the diagnosis and treatment of primary ciliary dyskinesia.

21 Jun, 2021 | 08:27h | UTC

Advances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia: A Review – JAMA Otolaryngology – Head & Neck Surgery (free for a limited period)

 


CDC now calls coronavirus Delta variant a ‘variant of concern’.

17 Jun, 2021 | 09:53h | UTC

CDC now calls coronavirus Delta variant a ‘variant of concern’ – CNN

Guidance: SARS-CoV-2 Variant Classifications and Definitions – Centers for Disease Control and Prevention

 

Commentary on Twitter

 


[Preprint] Covid-19 B.1.617.2 variant of concern (Delta) is associated with increased transmissibility compared to B.1.1.7 (Alpha) that will rapidly lead to B.1.617.2 becoming the prevailing variant in the UK.

4 Jun, 2021 | 10:36h | UTC

Interim estimates of increased transmissibility, growth rate, and reproduction number of the Covid-19 B.1.617.2 variant of concern in the United Kingdom – medRxiv

Related: Covid: Indian variant ‘now dominant’ in the UK – BBC

 


After COVID-19 successes, researchers push to develop mRNA vaccines for other infectious diseases and cancer.

2 Jun, 2021 | 08:34h | UTC

After COVID-19 successes, researchers push to develop mRNA vaccines for other diseases – Nature Medicine

 


What scientists know about new, fast-spreading coronavirus variants.

26 May, 2021 | 08:45h | UTC

What scientists know about new, fast-spreading coronavirus variants – Nature

 


A ‘more rapidly spreading virus’ (B.1.617 variant) is fueling India’s mega COVID-19 surge, WHO chief scientist says

11 May, 2021 | 09:16h | UTC

A ‘more rapidly spreading virus’ is fueling India’s mega COVID-19 surge, WHO chief scientist says – Insider

See also: WHO Upgrades Virus Mutation Driving India’s COVID Surge To ‘Variant of Concern’ – Global Cases Start To ‘Plateau’ – Health Policy Watch AND Why India needs oxygen more urgently than vaccines – Vox AND WHO names B1617 fourth COVID-19 variant of concern – CIDRAP

 


Case-control study shows an increased risk of colorectal cancer in first degree relatives of patients with colorectal polyps.

10 May, 2021 | 00:50h | UTC

Risk of colorectal cancer in first degree relatives of patients with colorectal polyps: nationwide case-control study in Sweden – The BMJ

Commentaries: Intestinal polyps in close relatives can increase risk of colorectal cancer – Karolinska Institutet AND Relatives’ Colonoscopy Results Could Affect Your Colon Cancer Risk – HealthDay

 

Commentary on Twitter

 


Study on five million Swedes finds links between blood groups and disease risks

3 May, 2021 | 05:09h | UTC

News Release: Study on five million Swedes finds links between blood groups and disease risks – Karolinska Institutet

Original Study: An agnostic study of associations between ABO and RhD blood group and phenome-wide disease risk – eLife

 


One million coronavirus sequences: popular genome site hits mega milestone

25 Apr, 2021 | 21:59h | UTC

One million coronavirus sequences: popular genome site hits mega milestone – Nature

 


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

 


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