Open access
Open access
Powered by Google Translator Translator

Genetics

Single-arm phase 3 Trial: Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy.

20 Jun, 2022 | 01:04h | UTC

Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial – Nature Medicine

 

Commentary on Twitter

 


Consensus Recommendation: Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis.

15 Jun, 2022 | 10:56h | UTC

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation – Genetics in Medicine

 


ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility.

14 Jun, 2022 | 10:59h | UTC

ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations – Gastrointestinal Endoscopy

Commentary: New guidelines for pancreatic cancer screening – Beth Israel Deaconess Medical Center

 

Commentary on Twitter

 


One in 500 men carry extra sex chromosome, putting them at higher risk of several common diseases.

13 Jun, 2022 | 10:35h | UTC

News Release: One in 500 men carry extra sex chromosome, putting them at higher risk of several common diseases – University of Cambridge

Original Study: Detection and characterization of male sex chromosome abnormalities in the UK Biobank study – Genetics in Medicine

Commentary: One in 500 men carry extra sex chromosome, research suggests – The Guardian

 

Commentary on Twitter

 


Study shows a person’s height impacts their risk of multiple diseases.

9 Jun, 2022 | 11:34h | UTC

News Release: A person’s height impacts their risk of multiple diseases – Public Library of Science

Original Study: A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program – PLOS Genetics

 


Pericarditis and autoinflammation: a clinical and genetic analysis of patients with idiopathic recurrent pericarditis and monogenic autoinflammatory diseases at a national referral center.

8 Jun, 2022 | 10:39h | UTC

Pericarditis and Autoinflammation: A Clinical and Genetic Analysis of Patients With Idiopathic Recurrent Pericarditis and Monogenic Autoinflammatory Diseases at a National Referral Center – Journal of the American Heart Association

Invited Commentary: Idiopathic Recurrent Pericarditis: Not Really So Idiopathic? – Journal of the American Heart Association

 


Review: Integration of genomic biology into therapeutic strategies of gastric cancer peritoneal metastasis.

3 Jun, 2022 | 10:51h | UTC

Integration of Genomic Biology Into Therapeutic Strategies of Gastric Cancer Peritoneal Metastasis – Journal of Clinical Oncology

 


Current guidelines in the surgical management of hereditary colorectal cancers.

27 May, 2022 | 12:00h | UTC

Current guidelines in the surgical management of hereditary colorectal cancers – World Journal of Gastrointestinal Oncology

 


Position Paper: Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer.

26 May, 2022 | 10:42h | UTC

Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer: a position paper of Italian Scientific Societies – ESMO Open

 


Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.

23 May, 2022 | 01:16h | UTC

Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers – Nature Communications

Commentaries:

Researchers show the feasibility of a comprehensive sequencing approach in pediatric and young adult cancers – News Medical / Memorial Sloan Kettering Cancer Center

Study Points to Expanded Genomic Testing to Benefit Children and Young Adults With Cancer – The ASCO Post

 

Commentary from the author on Twitter (thread – click for more)

 


Clinical Report: Health supervision for children and adolescents with Down Syndrome.

16 May, 2022 | 02:15h | UTC

Health Supervision for Children and Adolescents With Down Syndrome – Pediatrics

 


M-A: Efficacy and safety of Selumetinib in pediatric patients with Neurofibromatosis Type 1.

5 May, 2022 | 09:41h | UTC

Efficacy and Safety of Selumetinib in Pediatric Patients With Neurofibromatosis Type 1: A Systematic Review and Meta-analysis  – Neurology (link to abstract – $ for full-text)

Commentary: Selumetinib Significantly Decreased Tumor Burden in Children with Symptomatic Inoperable Plexiform Neurofibromas – Neurology Today

 

Commentary on Twitter

 


Review: Germline testing and genetic counselling in prostate cancer.

28 Apr, 2022 | 08:11h | UTC

Germline testing and genetic counselling in prostate cancer – Nature Reviews Urology (if the link is paywalled, try this one at PMC)

 


Conclusions from a controversies conference: genetics in chronic kidney disease.

26 Apr, 2022 | 07:53h | UTC

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference – Kidney International

 


Development of a clinical polygenic risk score assay and reporting workflow.

19 Apr, 2022 | 01:39h | UTC

Development of a clinical polygenic risk score assay and reporting workflow – Nature Medicine

News Release: Newly Developed Genetic Risk Scores Could Help Patients, Physicians Make Health Decisions – Brigham and Women’s Hospital

 

Commentary on Twitter

 


RCT: Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder.

19 Apr, 2022 | 01:20h | UTC

Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial – The Lancet Neurology (link to abstract – $ for full-text)

 


RCT: Mitapivat vs. placebo for Pyruvate Kinase Deficiency.

18 Apr, 2022 | 10:13h | UTC

Mitapivat versus Placebo for Pyruvate Kinase Deficiency – New England Journal of Medicine

 


Review: Management challenges and therapeutic advances in congenital adrenal hyperplasia.

18 Apr, 2022 | 10:10h | UTC

Management challenges and therapeutic advances in congenital adrenal hyperplasia – Nature Reviews Endocrinology (if the link is paywalled, try this one)

 

Commentary on Twitter

 


M-A: Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy.

14 Apr, 2022 | 08:09h | UTC

Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis – openheart

 


New insights into the genetic etiology of Alzheimer’s disease and related dementias.

13 Apr, 2022 | 10:26h | UTC

New insights into the genetic etiology of Alzheimer’s disease and related dementias – Nature Genetics

News Release:

Landmark study reveals 42 new genes associated with increased risk of Alzheimer’s disease – UK Dementia Research Institute

Commentaries:

42 previously unknown genes discovered for Alzheimer’s disease – CNN

Alzheimer’s disease research takes ‘major leap forward’ – BBC

Expert reaction to study of genes associated with increased risk of Alzheimer’s – Science Media Centre

 

Commentary on Twitter

 


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

 


Stay Updated in Your Specialty

No spam, just news.