Genetics
Guidance for the diagnosis and treatment of hypolipidemia disorders.
28 Oct, 2022 | 13:19h | UTCGuidance for the diagnosis and treatment of hypolipidemia disorders – Journal of Clinical Lipidology
Cohort Study | Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy.
24 Oct, 2022 | 14:08h | UTCEditorial: Arrhythmogenic cardiomyopathies in children: seek and you shall find – European Heart Journal
Commentary on Twitter
Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy: discover more in EHJ!https://t.co/kA60A1zjRt#ARVC #children #screening #heart #transplantation #cardiotwitter @escardio @ESC_Journals pic.twitter.com/fq4X8doBMI
— EHJ Editor-in-Chief (@ehj_ed) September 6, 2022
Under a https://creativecommons.org/licenses/by-nc/4.0/ License
Cohort Study | Genetic sequencing of pancreatic cyst fluid reveals diverse genomic alterations that may guide clinical management.
20 Oct, 2022 | 12:24h | UTCNews Release: Genetic test for pancreatic cancer outperforms current guidelines – University of Pittsburgh
Commentary from the author on Twitter (thread – click for more)
A tweetorial on our study (https://t.co/OCqCRJEMdx). But, first a case: Young female w/ a 1.9 cm incidental pancreatic cyst. No concerning features, but KRAS, TP53 and SMAD4 mutations on molecular testing. Surgical resection: #IPMN w/ a small #PancreaticCancer. #Pathology #GIPath pic.twitter.com/hMJQ4OAUld
— Aatur Singhi, MD PhD (@PancPathologist) October 10, 2022
Review | Cardiac care of children with Duchenne muscular dystrophy (DMD) and females carrying DMD-gene variations.
20 Oct, 2022 | 12:21h | UTCCardiac care of children with dystrophinopathy and females carrying DMD-gene variations – openheart
Clinical risk score to predict pathogenic genotypes in patients with dilated cardiomyopathy.
26 Sep, 2022 | 11:57h | UTC
Commentary on Twitter
Is it possible to predict which pts w/ dilated cardiomyopathy/left ventricular dysfunction will have an assoc. predisposition on genetic testing?
Via the Madrid Score, Drs. @LuisEscobarL, @dr_pavia, & colleagues work to answer this question in #JACC: https://t.co/WDn8jA29aY pic.twitter.com/u0T9FffOwi
— JACC Journals (@JACCJournals) September 13, 2022
New research estimates the overall disease burden of genetic risk factors.
15 Sep, 2022 | 13:13h | UTCNews Release: New research estimates the overall disease burden of genetic risk factors – University of Helsinki
Original Study: Genetic risk factors have a substantial impact on healthy life years – Nature Medicine
Commentaries on Twitter
From combining genetic data in over 730,000 people and 80 diseases burden estimates:
"Genetic risk factors can explain a sizable number of healthy life years lost both at the individual and population level"https://t.co/ggljmkcmHG @NatureMed @andganna @DrSakari @FIMM_UH pic.twitter.com/rUI1Ua3mIP— Eric Topol (@EricTopol) September 12, 2022
An analysis in @NatureMedicine estimates that genetic risk factors significantly impact the number of healthy life years lost both at the individual and population level. https://t.co/I2mNNOrtYi pic.twitter.com/1WfI6fXbZ8
— Nature Portfolio (@NaturePortfolio) September 12, 2022
Retrospective Cohort Study | Natural history of MYH7-related dilated cardiomyopathy.
14 Sep, 2022 | 13:06h | UTC
M-A | Blood type linked to the risk of stroke before age 60.
13 Sep, 2022 | 13:17h | UTCContribution of Common Genetic Variants to Risk of Early Onset Ischemic Stroke – Neurology (link to abstract – $ for full-text)
News Releases:
Is your blood type linked to your risk of stroke before age 60? – American Academy of Neurology
Blood Type Linked To Stroke Risk Before 60 – University of Maryland
After the genome—a brief history of proteomics.
1 Sep, 2022 | 11:58h | UTCAfter the Genome—A Brief History of Proteomics – JAMA (free for a limited period)
Video: Proteomics 101 – JAMA
Commentary on Twitter
With researchers touting recent success in sequencing the #humangenome’s remaining gaps, an emerging frontier is #proteomics: identifying and studying an entire set of expressed #proteins in the human body and other organisms. https://t.co/KIhBbWiYpx #proteomes #proteoforms
— JAMA (@JAMA_current) August 31, 2022
#ESCCongress – Meta-analysis of randomized trials | Angiotensin receptor blockers and Beta-blockers in Marfan syndrome: an individual patient data meta-analysis of randomized trials.
30 Aug, 2022 | 12:15h | UTCNews Release: Drug combination may delay need for surgery in patients with Marfan syndrome – TCTMD
Commentary: ARBs Halve Rate of Aortic Root Enlargement in Marfan: Meta-analysis – TCTMD
Review | Incremental value of polygenic risk scores in primary prevention of coronary heart disease.
26 Aug, 2022 | 13:26h | UTCIncremental Value of Polygenic Risk Scores in Primary Prevention of Coronary Heart Disease: A Review – JAMA Internal Medicine (free for a limited period)
Related:
Cohort Study | Polygenic risk, midlife life’s simple 7, and lifetime risk of stroke.
AHA Scientific Statement | Polygenic risk scores for cardiovascular disease.
Cohort Study: A polygenic risk score may improve risk stratification of coronary artery disease.
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.
Cohort Study | Recurrence of axial spondyloarthritis among first-degree relatives in a prospective 35-year-follow-up family study.
11 Aug, 2022 | 11:47h | UTCCommentary: Substantial lifetime risk for axSpA among relatives of patients with ankylosing spondylitis – medwire News
Commentary on Twitter
The frequency of first-degree relatives from HLA B27+ patients with #ankylosingspondylitis to also have was 27.1% in a 35-year follow-up study from ?? Mothers with AS were more likely than fathers to pass on the risk to their children. https://t.co/iRGux3lXvm pic.twitter.com/KBzyRZnjQN
— ARD & RMD Open (@ARD_BMJ) July 24, 2022
Systematic Review | Endometrial cancer and BRCA mutations.
5 Aug, 2022 | 14:09h | UTCEndometrial Cancer and BRCA Mutations: A Systematic Review – Journal of Clinical Medicine
Cohort Study | Predictive utility of a validated polygenic risk score for long-term risk of coronary heart disease in young and middle-aged adults.
28 Jul, 2022 | 13:15h | UTCPredictive Utility of a Validated Polygenic Risk Score for Long-Term Risk of Coronary Heart Disease in Young and Middle-Aged Adults – Circulation (free for a limited period)
News Release: Old-School Health Assessment Beats Genetic Test for Predicting Heart Disease – Nuke University
Cohort Study | Polygenic risk, midlife life’s simple 7, and lifetime risk of stroke.
26 Jul, 2022 | 12:38h | UTCNews Release: A healthy lifestyle can offset a high genetic risk for stroke – University of Texas Health Science Center at Houston
Commentary: Lifetime Risk for Stroke Varies With Genetic Risk, Cardiovascular Health – HealthDay
Single-arm phase 1–2 trial of AAVS3 gene therapy in patients with Hemophilia B.
21 Jul, 2022 | 13:23h | UTCPhase 1–2 Trial of AAVS3 Gene Therapy in Patients with Hemophilia B – New England Journal of Medicine (link to abstract – $ for full-text)
News Release: Novel gene therapy could reduce bleeding risk for hemophilia patients – University College London
Commentary: Hemophilia B Gene Therapy Produces Durable Response for 90% of Participants – AJMC
Commentary on Twitter
Nine of 10 patients with hemophilia B who received a liver-directed adeno-associated viral vector containing a hyperactive variant of factor IX maintained factor IX activity for up to 42 months. Thrombosis developed in 1 patient. https://t.co/yId8HWS1u2 pic.twitter.com/CdDeizSMK6
— NEJM (@NEJM) July 20, 2022
AHA Scientific Statement | Polygenic risk scores for cardiovascular disease.
20 Jul, 2022 | 12:31h | UTC
EASL Clinical Practice Guidelines on hemochromatosis.
18 Jul, 2022 | 11:47h | UTCEASL Clinical Practice Guidelines on haemochromatosis – Journal of Hepatology
Guidelines on germline testing for urologic tumor syndromes.
15 Jul, 2022 | 12:49h | UTCGuidelines on Germline Testing for Urologic Tumor Syndromes – European Urology Focus
RCT | Pharmacogenomic testing for drug-gene interactions provides little benefit for the remission of symptoms in major depressive disorder.
14 Jul, 2022 | 13:05h | UTCEffect of Pharmacogenomic Testing for Drug-Gene Interactions on Medication Selection and Remission of Symptoms in Major Depressive Disorder: The PRIME Care Randomized Clinical Trial – JAMA (free for a limited period)
Editorial: Pharmacogenomic Testing for Next-Step Antidepressant Selection: Still a Work in Progress – JAMA (free for a limited period)
Commentary: Does Pharmacogenomic Testing Improve Outcomes in Major Depressive Disorder? — The evidence is unclear – MedPage Today (free registration required)
Commentary on Twitter
In this randomized clinical trial, pharmacogenomic testing for drug-gene interactions in major depressive disorder reduced prescription of medications with predicted drug-gene interactions but had small and nonpersistent effects on symptom remission. https://t.co/Z2OIK3h1Bo pic.twitter.com/8eKSipfBFN
— JAMA (@JAMA_current) July 12, 2022
Cohort Study | Prediction models for celiac disease development in children from high-risk families.
14 Jul, 2022 | 12:31h | UTC
Genetic testing in prostate cancer management: considerations informing primary care.
13 Jul, 2022 | 11:25h | UTC
Modern developments in germline pharmacogenomics for oncology prescribing.
13 Jul, 2022 | 11:21h | UTC
M-A | Utility of provocative testing in the diagnosis and genotyping of congenital long QT syndrome.
13 Jul, 2022 | 11:13h | UTC
RCT | Efficacy and safety of Elexacaftor/Tezacaftor/Ivacaftor in children 6 through 11 years of age with cystic fibrosis heterozygous for F508del and a minimal function mutation.
13 Jul, 2022 | 11:07h | UTCEfficacy and Safety of Elexacaftor/Tezacaftor/Ivacaftor in Children 6 Through 11 Years of Age with Cystic Fibrosis Heterozygous for F508del and a Minimal Function Mutation: A Phase 3B, Randomized, Placebo-Controlled Study – American Journal of Respiratory and Critical Care Medicine (link to abstract – $ for full-text)