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Genetics

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)

 

[Abstract Only] Super-precise New CRISPR Tool Could Tackle a Plethora of Genetic Diseases

22 Oct, 2019 | 08:03h | UTC

Super-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

Non-pharmacological interventions for osteoporosis treatment: Systematic review of clinical practice guidelines – Osteoporosis and Sarcopenia (free)

 

[Abstract Only] Study: The Prevalence of Hemophilia is Higher than Previously Estimated

24 Sep, 2019 | 07:49h | UTC

Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries – Annals of Internal Medicine (link to abstract – $ for full-text)

Commentaries: Hemophilia three times more prevalent than thought – McMaster University (free) AND 1,125,000 Men/Boys Expected to Have Hemophilia Worldwide – Clinical Advisor (free) AND Prevalence of Hemophilia Worldwide Is Triple That of Previous Estimates, New Study Says – AJMC (free)

 

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment of Colorectal Cancer

10 Sep, 2019 | 01:19h | UTC

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019 – Journal of the National Comprehensive Cancer Network (free)

 

Study: Genetic Exposure to Lower Levels of LDL Cholesterol and Systolic Blood Pressure are Associated with Lower Cardiovascular Risk

5 Sep, 2019 | 08:13h | UTC

Association of Genetic Variants Related to Combined Exposure to Lower Low-Density Lipoproteins and Lower Systolic Blood Pressure With Lifetime Risk of Cardiovascular Disease – JAMA (free for a limited period)

Commentary: Sustained drop in cholesterol and blood pressure reduces lifetime risk of heart, circulatory diseases – News Medical (free)

 

Study Finds No ‘Gay Gene,’ But Some Question Whether the Search Should Have Started At All

3 Sep, 2019 | 01:18h | UTC

Study Finds No ‘Gay Gene,’ But Some Question Whether The Search Should Have Started At All – CommonHealth (free)

Original Study: Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior – Science (free for a limited period)

Other commentaries: No ‘gay gene’: Massive study homes in on genetic basis of human sexuality – Nature (free) AND Genetics may explain up to 25% of same-sex behavior, giant analysis reveals – Science (free) AND Search For ‘Gay Genes’ Comes Up Short In Large New Study – NPR (free) AND Many Genes Influence Same-Sex Sexuality, Not a Single ‘Gay Gene’ – The New York Times (10 articles per month are free) AND No single gene associated with being gay – BBC (free)

 

Mendelian Randomization Study: Genetically Determined Iron Status on Risk of Venous Thromboembolism and Carotid Atherosclerotic Disease

25 Aug, 2019 | 21:28h | UTC

Effects of Genetically Determined Iron Status on Risk of Venous Thromboembolism and Carotid Atherosclerotic Disease: A Mendelian Randomization Study – Journal of the American Heart Association (free)

 

Meta-Analysis: Quality of Dietary Fat and Genetic Risk of Type 2 Diabetes

25 Aug, 2019 | 21:07h | UTC

Quality of dietary fat and genetic risk of type 2 diabetes: individual participant data meta-analysis – The BMJ (free)

Commentaries: Interventions for type 2 diabetes successful across the genetic landscape – Massachusetts General Hospital (free) AND Genetics no barrier to dietary modification benefits on type 2 diabetes risk – medwire News (free)

 

Study: High Prevalence of Celiac Disease Among Screened First-Degree Relatives

23 Aug, 2019 | 08:33h | UTC

High Prevalence of Celiac Disease Among Screened First-Degree Relatives – Mayo Clinic Proceedings (free for a limited period)

Commentary: Study calls for screening of all first-degree relatives of celiac disease patients – News Medical (free)

 

Precision Medicine in Breast Cancer: Scientists Have used Artificial Intelligence to Identified Gene Sequences and Molecular Data Patterns that May Predict Response to Different Treatments

18 Aug, 2019 | 21:39h | UTC

Heterocellular gene signatures reveal luminal-A breast cancer heterogeneity and differential therapeutic responses – npj Breast Cancer (free)

Commentary: AI reveals new breast cancer types that respond differently to treatment – Institute of Cancer Research (free)

 

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