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Genetics

New research estimates the overall disease burden of genetic risk factors.

15 Sep, 2022 | 13:13h | UTC

News Release: New research estimates the overall disease burden of genetic risk factors – University of Helsinki

Original Study: Genetic risk factors have a substantial impact on healthy life years – Nature Medicine

 

Commentaries on Twitter

 


Retrospective Cohort Study | Natural history of MYH7-related dilated cardiomyopathy.

14 Sep, 2022 | 13:06h | UTC

Natural History of MYH7-related Dilated Cardiomyopathy – Journal of the American College of Cardiology

 


M-A | Blood type linked to the risk of stroke before age 60.

13 Sep, 2022 | 13:17h | UTC

Contribution of Common Genetic Variants to Risk of Early Onset Ischemic Stroke – Neurology (link to abstract – $ for full-text)

News Releases:

Is your blood type linked to your risk of stroke before age 60? – American Academy of Neurology

Blood Type Linked To Stroke Risk Before 60 – University of Maryland

 


After the genome—a brief history of proteomics.

1 Sep, 2022 | 11:58h | UTC

After the Genome—A Brief History of Proteomics – JAMA (free for a limited period)

Video: Proteomics 101 – JAMA

 

Commentary on Twitter

 


#ESCCongress – Meta-analysis of randomized trials | Angiotensin receptor blockers and Beta-blockers in Marfan syndrome: an individual patient data meta-analysis of randomized trials.

30 Aug, 2022 | 12:15h | UTC

Angiotensin receptor blockers and β blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials – The Lancet

News Release: Drug combination may delay need for surgery in patients with Marfan syndrome – TCTMD

Commentary: ARBs Halve Rate of Aortic Root Enlargement in Marfan: Meta-analysis – TCTMD

 


Review | Incremental value of polygenic risk scores in primary prevention of coronary heart disease.

26 Aug, 2022 | 13:26h | UTC

Incremental Value of Polygenic Risk Scores in Primary Prevention of Coronary Heart Disease: A Review – JAMA Internal Medicine (free for a limited period)

Related:

Cohort Study | Predictive utility of a validated polygenic risk score for long-term risk of coronary heart disease in young and middle-aged adults.

Cohort Study | Polygenic risk, midlife life’s simple 7, and lifetime risk of stroke.

AHA Scientific Statement | Polygenic risk scores for cardiovascular disease.

Cohort Study: A polygenic risk score may improve risk stratification of coronary artery disease.

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.

Studies: Little Benefit from Polygenic Risk Score vs. Clinical Risk Score for Predicting Cardiovascular Risk

 


Cohort Study | Recurrence of axial spondyloarthritis among first-degree relatives in a prospective 35-year-follow-up family study.

11 Aug, 2022 | 11:47h | UTC

Recurrence of axial spondyloarthritis among first-degree relatives in a prospective 35-year-follow-up family study – RMD Open

Commentary: Substantial lifetime risk for axSpA among relatives of patients with ankylosing spondylitis – medwire News

 

Commentary on Twitter

 


Systematic Review | Endometrial cancer and BRCA mutations.

5 Aug, 2022 | 14:09h | UTC

Endometrial Cancer and BRCA Mutations: A Systematic Review – Journal of Clinical Medicine

 


Cohort Study | Predictive utility of a validated polygenic risk score for long-term risk of coronary heart disease in young and middle-aged adults.

28 Jul, 2022 | 13:15h | UTC

Predictive Utility of a Validated Polygenic Risk Score for Long-Term Risk of Coronary Heart Disease in Young and Middle-Aged Adults – Circulation (free for a limited period)

News Release: Old-School Health Assessment Beats Genetic Test for Predicting Heart Disease – Nuke University

 


Cohort Study | Polygenic risk, midlife life’s simple 7, and lifetime risk of stroke.

26 Jul, 2022 | 12:38h | UTC

Polygenic Risk, Midlife Life’s Simple 7, and Lifetime Risk of Stroke – Journal of the American Heart Association

News Release: A healthy lifestyle can offset a high genetic risk for stroke – University of Texas Health Science Center at Houston

Commentary: Lifetime Risk for Stroke Varies With Genetic Risk, Cardiovascular Health – HealthDay

 


Single-arm phase 1–2 trial of AAVS3 gene therapy in patients with Hemophilia B.

21 Jul, 2022 | 13:23h | UTC

Phase 1–2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B – New England Journal of Medicine (link to abstract – $ for full-text)

News Release: Novel gene therapy could reduce bleeding risk for hemophilia patients – University College London

Commentary: Hemophilia B Gene Therapy Produces Durable Response for 90% of Participants – AJMC

 

Commentary on Twitter

 


AHA Scientific Statement | Polygenic risk scores for cardiovascular disease.

20 Jul, 2022 | 12:31h | UTC

Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association – Circulation

 


EASL Clinical Practice Guidelines on hemochromatosis.

18 Jul, 2022 | 11:47h | UTC

EASL Clinical Practice Guidelines on haemochromatosis – Journal of Hepatology

 


Guidelines on germline testing for urologic tumor syndromes.

15 Jul, 2022 | 12:49h | UTC

Guidelines on Germline Testing for Urologic Tumor Syndromes – European Urology Focus

 


RCT | Pharmacogenomic testing for drug-gene interactions provides little benefit for the remission of symptoms in major depressive disorder.

14 Jul, 2022 | 13:05h | UTC

Effect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder: The PRIME Care Randomized Clinical Trial – JAMA (free for a limited period)

Editorial: Pharmacogenomic Testing for Next-Step Antidepressant Selection: Still a Work in Progress – JAMA (free for a limited period)

Commentary: Does Pharmacogenomic Testing Improve Outcomes in Major Depressive Disorder? — The evidence is unclear – MedPage Today (free registration required)

 

Commentary on Twitter

 


Cohort Study | Prediction models for celiac disease development in children from high-risk families.

14 Jul, 2022 | 12:31h | UTC

Prediction Models for Celiac Disease Development in Children From High-Risk Families: Data From the PreventCD Cohort – Gastroenterology

 


Genetic testing in prostate cancer management: considerations informing primary care.

13 Jul, 2022 | 11:25h | UTC

Genetic testing in prostate cancer management: Considerations informing primary care – CA: A Cancer Journal for Clinicians

 


Modern developments in germline pharmacogenomics for oncology prescribing.

13 Jul, 2022 | 11:21h | UTC

Modern developments in germline pharmacogenomics for oncology prescribing – CA: A Cancer Journal for Clinicians

 


M-A | Utility of provocative testing in the diagnosis and genotyping of congenital long QT syndrome.

13 Jul, 2022 | 11:13h | UTC

Utility of Provocative Testing in the Diagnosis and Genotyping of Congenital Long QT Syndrome: A Systematic Review and Meta‐Analysis – Journal of the American Heart Association

 


RCT | Efficacy and safety of Elexacaftor/Tezacaftor/Ivacaftor in children 6 through 11 years of age with cystic fibrosis heterozygous for F508del and a minimal function mutation.

13 Jul, 2022 | 11:07h | UTC

Efficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Children 6 Through 11 Years of Age with Cystic Fibrosis Heterozygous for F508del and a Minimal Function Mutation: A Phase 3B, Randomized, Placebo-Controlled Study – American Journal of Respiratory and Critical Care Medicine (link to abstract – $ for full-text)

 


Opinion | Secrecy: a demon of gene therapy’s past bedevils its future.

12 Jul, 2022 | 12:31h | UTC

Secrecy: A demon of gene therapy’s past bedevils its future – STAT

 


RCT | Odevixibat treatment in progressive familial intrahepatic cholestasis.

6 Jul, 2022 | 11:35h | UTC

Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial – The Lancet Gastroenterology & Hepatology

Invited Commentary: The first new drug for progressive familial intrahepatic cholestasis – The Lancet Gastroenterology & Hepatology (free registration required)

 

Commentary on Twitter


Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator.

5 Jul, 2022 | 11:29h | UTC

Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator – European Heart Journal

Related Study: Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator – European Heart Journal

Editorial: Arrhythmogenic right ventricular cardiomyopathy: the never-ending quest for a risk calculator


Cohort Study | Novel risk prediction model to determine adverse heart failure outcomes in arrhythmogenic right ventricular cardiomyopathy.

4 Jul, 2022 | 11:53h | UTC

Novel Risk Prediction Model to Determine Adverse Heart Failure Outcomes in Arrhythmogenic Right Ventricular Cardiomyopathy – Journal of the American Heart Association

Editorial: Predicting Heart Failure in Arrhythmogenic Right Ventricular Cardiomyopathy


Genome-wide association analysis and replication in 810,625 individuals with varicose veins.

30 Jun, 2022 | 10:18h | UTC

Genome-wide association analysis and replication in 810,625 individuals with varicose veins – Nature Communications

News Release: Oxford’s largest ever study into varicose veins shows need for surgery is linked to genetics – University of Oxford

 

Commentary on Twitter

 


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