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
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
Review: Epigenetics in congenital heart disease.
8 Apr, 2022 | 10:12h | UTCEpigenetics 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
RCT: Effect of different corticosteroid dosing regimens on clinical outcomes in boys with Duchenne Muscular Dystrophy.
7 Apr, 2022 | 08:53h | UTCEffect 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.
Research: Long-term effects of glucocorticoids in patients with Duchenne muscular dystrophy
Commentary on Twitter
In this randomized clinical trial of boys with Duchenne muscular dystrophy, treatment with daily #prednisone or daily #deflazacort resulted in significantly better outcomes compared with intermittent prednisone. https://t.co/rKjSrjVemR #AAN2022 pic.twitter.com/qPNV9KBOXv
— JAMA (@JAMA_current) April 5, 2022
Recommendations for reporting results of diagnostic genomic testing.
7 Apr, 2022 | 08:02h | UTC
Expert Consensus Statement on the state of genetic testing for cardiac diseases.
5 Apr, 2022 | 08:31h | UTCNews Release: Recommendations on genetic testing for inherited cardiac diseases published today – European Society of Cardiology
Commentary on Twitter
#EHRA_ESC/Heart Rhythm Society/Asia Pacific Heart Rhythm Society/Latin American Heart Rhythm Society Expert Consensus Statement on the state of genetic testing for cardiac diseases: https://t.co/CLL5EEuK6z#Europace #EHRA2022 @GerdHindricks @ABollmannMD #EPeeps #cardiotwitter pic.twitter.com/3hz4o5ynDh
— European Society of Cardiology Journals (@ESC_Journals) April 4, 2022