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Genetics

Review: Epigenetics in congenital heart disease.

8 Apr, 2022 | 10:12h | UTC

Epigenetics in Congenital Heart Disease – Journal of the American Heart Association

 


Review: Myocardial inflammation and sudden death in the inherited cardiomyopathies.

8 Apr, 2022 | 09:46h | UTC

Myocardial Inflammation and Sudden Death in the Inherited Cardiomyopathies – Canadian Journal of Cardiology

 


RCT: Effect of different corticosteroid dosing regimens on clinical outcomes in boys with Duchenne Muscular Dystrophy.

7 Apr, 2022 | 08:53h | UTC

Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial – JAMA (free for a limited period)

Related:

RCT: Routine lung volume recruitment is not beneficial for boys with Duchenne muscular dystrophy.

Phase 2 RCT: Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy.

Research: Long-term effects of glucocorticoids in patients with Duchenne muscular dystrophy

 

Commentary on Twitter

 


Recommendations for reporting results of diagnostic genomic testing.

7 Apr, 2022 | 08:02h | UTC

Recommendations for reporting results of diagnostic genomic testing – European Journal of Human Genetics

 


Expert Consensus Statement on the state of genetic testing for cardiac diseases.

5 Apr, 2022 | 08:31h | UTC

European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases

News Release: Recommendations on genetic testing for inherited cardiac diseases published today – European Society of Cardiology

 

Commentary on Twitter

 


Researchers generate the first complete, gapless sequence of a human genome.

4 Apr, 2022 | 01:30h | UTC

News Release: Researchers generate the first complete, gapless sequence of a human genome – NIH News Releases

Original Study: The complete sequence of a human genome – Science

Commentaries:

Scientists sequence the complete human genome for the first time – CNN

First complete gap-free human genome sequence published – The Guardian

Scientists finally finish decoding entire human genome – Associated Press

 


Genetic testing identified a disease-causing variant in 10% of unexplained cardiac arrest survivors.

1 Apr, 2022 | 08:47h | UTC

Importance of genetic testing in cardiac arrest – European Heart Journal

 

Commentary on Twitter

 


WHO Global genomic surveillance strategy for pathogens with pandemic and epidemic potential 2022–2032.

31 Mar, 2022 | 08:45h | UTC

Global genomic surveillance strategy for pathogens with pandemic and epidemic potential 2022–2032 – World Health Organization

News Release: WHO releases 10-year strategy for genomic surveillance of pathogens – World Health Organization

 

Commentary on Twitter (thread – click for more)

 


Phase 2 RCT: Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy.

22 Mar, 2022 | 07:59h | UTC

Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial – The Lancet

Commentary: Cellular therapy improves signs and symptoms of Duchenne muscular dystrophy – University of California – Davis Health

 

Commentary on Twitter

 


Rapid point-of-care genotyping to avoid aminoglycoside-induced ototoxicity in neonatal intensive care.

22 Mar, 2022 | 08:01h | UTC

Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care – JAMA Pediatrics

Editorial: Genetic Testing in Newborns Moves From Rare to Routine Application

 

Commentary on Twitter

 


Antigenic evolution will lead to new SARS-CoV-2 variants with unpredictable severity.

21 Mar, 2022 | 09:47h | UTC

Antigenic evolution will lead to new SARS-CoV-2 variants with unpredictable severity – Nature Reviews Microbiology

 

Commentary on Twitter

 


M-A: Risk of peritoneal carcinomatosis after risk-reducing salpingo-oophorectomy in BRCA1/2 pathogenic variant (PV) carriers.

22 Mar, 2022 | 07:58h | UTC

Risk of Peritoneal Carcinomatosis After Risk-Reducing Salpingo-Oophorectomy: A Systematic Review and Individual Patient Data Meta-Analysis – Journal of Clinical Oncology

 


Valoctocogene Roxaparvovec gene therapy for Hemophilia A.

21 Mar, 2022 | 08:27h | UTC

Valoctocogene Roxaparvovec Gene Therapy for Hemophilia A – New England Journal of Medicine (link to abstract – $ for full-text)

Commentaries:

Valoctocogene Roxaparvovec Evaluated in Severe Hemophilia A – HealthDay

Hemophilia A Gene Therapy Reduced Bleeding Events, Need for Clotting Factors – AJMC

 


Two years later, coronavirus evolution still surprises experts. Here’s why.

15 Mar, 2022 | 08:52h | UTC

Two years later, coronavirus evolution still surprises experts. Here’s why. – National Geographic

 


Cancer risks other than female breast and ovarian cancers associated with BRCA1 and BRCA2 pathogenic variants.

3 Mar, 2022 | 08:14h | UTC

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants – Journal of Clinical Oncology

Commentary: Faulty BRCA genes linked to prostate and pancreatic cancers – University of Cambridge

 


(Epi)genetic predisposing factors found in one-third of children diagnosed with Wilms tumor.

3 Mar, 2022 | 08:10h | UTC

Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization – Journal of Clinical Oncology

Commentary: One third of children with a kidney tumor has hereditary predisposition – Princess Máxima Center for pediatric oncology in Utrecht

 


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

27 Feb, 2022 | 22:31h | UTC

A polygenic risk score improves risk stratification of coronary artery disease: a large-scale prospective Chinese cohort study – European Heart Journal

Editorial: Polygenic risk score: a tool ready for clinical use?

Related:

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

Perspective: The Approach to Predictive Medicine that is Taking Genomics Research by Storm

 


Review: CRISPR in cancer biology and therapy.

27 Feb, 2022 | 22:27h | UTC

CRISPR in cancer biology and therapy – Nature Reviews Cancer (if the link is paywalled, try this one)

 


Somatic Genomic Testing in Patients with Metastatic or Advanced Cancer: ASCO Provisional Clinical Opinion.

21 Feb, 2022 | 08:47h | UTC

Somatic Genomic Testing in Patients With Metastatic or Advanced Cancer: ASCO Provisional Clinical Opinion – Journal of Clinical Oncology

News Release: ASCO Provisional Clinical Opinion Offers Guidance for Using and Interpreting Genomic Testing in Patients With Advanced Cancer – ASCO Daily News

 


How COVID-19 transformed genomics and changed the handling of disease outbreaks forever.

17 Feb, 2022 | 09:56h | UTC

How COVID-19 transformed genomics and changed the handling of disease outbreaks forever – The Conversation

 


Betibeglogene Autotemcel gene therapy for Non–beta0/beta0 Genotype beta-thalassemia.

13 Feb, 2022 | 21:46h | UTC

Betibeglogene Autotemcel Gene Therapy for Non–β00 Genotype β-Thalassemia – New England Journal of Medicine (link to abstract – $ for full-text)

 

Commentary on Twitter

 


Study finds there is probably a high rate of underdiagnosed Fragile X Syndrome in the general population.

3 Feb, 2022 | 08:23h | UTC

Prevalence of Underdiagnosed Fragile X Syndrome in 2 Health Systems – JAMA Network Open

 


Opinion | “The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice”.

26 Jan, 2022 | 01:52h | UTC

The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice – European Journal of Human Genetics

Commentary: ‘Unproven and unethical’: experts warn against genetic embryo tests – The Guardian

 


Review: Genotypic and phenotypic characteristics of hereditary colorectal cancer.

26 Jan, 2022 | 01:16h | UTC

Genotypic and Phenotypic Characteristics of Hereditary Colorectal Cancer – Annals of Coloproctology

 


M-A: BRCA1 and BRCA2 pathogenic variants and prostate cancer risk.

25 Jan, 2022 | 09:01h | UTC

BRCA1 and BRCA2 pathogenic variants and prostate cancer risk: systematic review and meta-analysis – British Journal of Cancer

 


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