Genetics
Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator.
5 Jul, 2022 | 11:29h | UTCEditorial: 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 | UTCEditorial: 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 | UTCNews Release: Oxford’s largest ever study into varicose veins shows need for surgery is linked to genetics – University of Oxford
Commentary on Twitter
@WaheedURAhmed1 and colleagues find genetic variants associated with varicose veins and show that a higher polygenic risk score for varicose veins correlates with a greater likelihood of patients undergoing surgical treatment. https://t.co/9H7u017RE4 @DominicFurniss
— Nature Communications (@NatureComms) June 8, 2022
Indications and utility of cardiac genetic testing in athletes.
28 Jun, 2022 | 11:03h | UTC
Phase 2 single-arm study: Fazirsiran for liver disease associated with Alpha1-Antitrypsin deficiency.
27 Jun, 2022 | 11:19h | UTCFazirsiran for Liver Disease Associated with Alpha1-Antitrypsin Deficiency – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary on Twitter
In this small trial in adults with ATT deficiency, fazirsiran was associated with a strong reduction of mutant AAT levels in the serum and liver and concurrent improvements in liver enzyme levels. #ILC2022 https://t.co/RibsKzOQfO pic.twitter.com/BnMcSyfVcq
— NEJM (@NEJM) June 25, 2022
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
Commentary on Twitter
For infants with three copies of #SMN1 at risk for #SMA type 1, onasemnogene abeparvovec improves ventilator-free survival and nutritional/respiratory independence and allows motor development similar to healthy children without SMA. #2022SMAConferencehttps://t.co/tIsR1fByNK
— Nature Medicine (@NatureMedicine) June 17, 2022
Consensus Recommendation: Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis.
15 Jun, 2022 | 10:56h | UTC
ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility.
14 Jun, 2022 | 10:59h | UTCCommentary: New guidelines for pancreatic cancer screening – Beth Israel Deaconess Medical Center
Commentary on Twitter
Sawhney et al share "ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations." https://t.co/P6OtmhXr2D pic.twitter.com/vDHWfKCAiN
— GIE (@GIE_Journal) May 26, 2022
One in 500 men carry extra sex chromosome, putting them at higher risk of several common diseases.
13 Jun, 2022 | 10:35h | UTCNews 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
Interesting work looking at the prevalence of male sex chromosomal abnormalities in UK Biobank.
"Only 49 of 213 (23%) of men whom we identified with KS and only 1 of 143 (0.7%) with 47,XYY had a diagnosis of abnormal karyotype on their medical records or self-report." https://t.co/3VKh2rqxyn
— Veera M. Rajagopal (@doctorveera) June 11, 2022
Study shows a person’s height impacts their risk of multiple diseases.
9 Jun, 2022 | 11:34h | UTCNews 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 | UTCInvited 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
Current guidelines in the surgical management of hereditary colorectal cancers.
27 May, 2022 | 12:00h | UTC
Position Paper: Implementation of preventive and predictive BRCA testing in patients with breast, ovarian, pancreatic, and prostate cancer.
26 May, 2022 | 10:42h | UTC
Feasibility of whole genome and transcriptome profiling in pediatric and young adult cancers.
23 May, 2022 | 01:16h | UTCCommentaries:
Commentary from the author on Twitter (thread – click for more)
Feasibility of clinical whole genome and transcriptome sequencing (WGTS) in oncology. A ? on our latest study published in Nature Communications today:https://t.co/6007GkYDAc
— Elli Papaemmanuil, PhD (@PapaemmanuilLab) May 18, 2022
Clinical Report: Health supervision for children and adolescents with Down Syndrome.
16 May, 2022 | 02:15h | UTCHealth 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 | UTCEfficacy 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 on Twitter
A study via @GreenJournal reported that #selumetinib is a safe and effective treatment for pediatric patients with symptomatic, inoperable plexiform neurofibromas, but further studies are needed to confirm long-term outcomes. https://t.co/sRVaNFPKwV#NeuroTwitter pic.twitter.com/hYJNpN1EoU
— Neurology Today (@NeurologyToday) March 11, 2022
Review: Germline testing and genetic counselling in prostate cancer.
28 Apr, 2022 | 08:11h | UTCGermline 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
Development of a clinical polygenic risk score assay and reporting workflow.
19 Apr, 2022 | 01:39h | UTCDevelopment 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
The first report from the GenoVA Study provides preliminary insights on the development of a polygenic risk score assay in a clinical setting and discusses the challenges of generating, interpreting and reporting results @jasonvassy @MassGenBrigham https://t.co/zNNl35tMSs
— Nature Medicine (@NatureMedicine) April 18, 2022
RCT: Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder.
19 Apr, 2022 | 01:20h | UTCSafety 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 | UTCMitapivat 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 | UTCManagement challenges and therapeutic advances in congenital adrenal hyperplasia – Nature Reviews Endocrinology (if the link is paywalled, try this one)
Commentary on Twitter
New content online: Management challenges and therapeutic advances in congenital adrenal hyperplasia https://t.co/RCH4mRmvYe pic.twitter.com/76Jm00ISV1
— Nature Reviews Endocrinology (@NatureRevEndo) April 11, 2022
M-A: Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy.
14 Apr, 2022 | 08:09h | UTC
New insights into the genetic etiology of Alzheimer’s disease and related dementias.
13 Apr, 2022 | 10:26h | UTCNews Release:
Commentaries:
42 previously unknown genes discovered for Alzheimer’s disease – CNN
Alzheimer’s disease research takes ‘major leap forward’ – BBC
Commentary on Twitter
A meta-analysis in @NatureGenet of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia. https://t.co/EAtdlRozld pic.twitter.com/5rtWWt4HyS
— Nature Portfolio (@NaturePortfolio) April 11, 2022