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Genetics & Rare Diseases

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

 

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

 

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