Genetics
Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population
30 Jan, 2023 | 00:51h | UTCEstimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population – JAMA (free for a limited period)
Commentaries:
Study provides an estimate of people in the United States with VEXAS syndrome – News Medical
Prevalence of VEXAS Syndrome Identified in U.S. Health System – HealthDay
Consensus Paper | Tumor surveillance guidelines for individuals with neurofibromatosis type 1
25 Jan, 2023 | 11:24h | UTC
Retrospective study | Supernumerary sex chromosome aneuploidies are associated with increased risk of VTE
18 Jan, 2023 | 14:22h | UTCAssociation of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism – JAMA (free for a limited period)
AGA clinical practice update on diagnosis and management of acute hepatic porphyrias
17 Jan, 2023 | 13:19h | UTC
Genetic causes of heart failure with preserved ejection fraction: emerging pharmacological treatments
17 Jan, 2023 | 13:08h | UTC
Commentary on Twitter
Genetic causes of heart failure with preserved ejection fraction: emerging pharmacological treatments https://t.co/LCV8X0t4CZ @escardio #EHJ #ESCYoung #cardiotwitter @ehj_ed @rladeiraslopes pic.twitter.com/InOj7mDts7
— European Society of Cardiology Journals (@ESC_Journals) January 16, 2023
Cohort Study | Contralateral breast cancer risk among carriers of germline pathogenic variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2
13 Jan, 2023 | 13:14h | UTC
Phase 1-2 study | Lentiviral gene therapy for artemis-deficient SCID
12 Jan, 2023 | 12:59h | UTCLentiviral Gene Therapy for Artemis-Deficient SCID – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: Infant gene therapy is a breakthrough for Artemis-SCID patients – University of California – San Francisco
Commentary on Twitter
Severe combined immunodeficiency caused by mutations in the gene encoding a DNA-repair enzyme called Artemis is difficult to treat. This study involving 10 patients supports a gene-therapy approach. https://t.co/SCpZjOQtMW pic.twitter.com/VRYOje6UPV
— NEJM (@NEJM) December 22, 2022
Review | Cancer epigenetics in clinical practice
11 Jan, 2023 | 14:15h | UTCCancer epigenetics in clinical practice – CA: A Cancer Journal for Clinicians
Expert Consensus | Clinical practice recommendations for primary hyperoxaluria
10 Jan, 2023 | 14:36h | UTC
Intrapatient RCT | Beremagene Geperpavec (B-VEC) vs. placebo for dystrophic epidermolysis bullosa.
16 Dec, 2022 | 13:34h | UTCTrial of Beremagene Geperpavec (B-VEC) for Dystrophic Epidermolysis Bullosa – New England Journal of Medicine (link to abstract – $ for full-text)
Featured Infographic | Recognizing Mendelian (Monogenic) CVD.
8 Dec, 2022 | 12:40h | UTCFeatured Infographic | Recognizing Mendelian (Monogenic) CVD – American College of Cardiology
Cohort Study | Polygenic risk score improves the accuracy of a clinical risk score for coronary artery disease.
23 Nov, 2022 | 13:55h | UTCRelated:
AHA Scientific Statement | Polygenic risk scores for cardiovascular disease.
Cohort Study | Polygenic risk, midlife life’s simple 7, and lifetime risk of stroke.
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.
Commentary on Twitter
A #Polygenic risk score improves the accuracy of a clinical risk score for #CoronaryArteryDisease
Read more about improved predictive accuracy for incident CAD in the #UKBiobank at #BMCMedicine https://t.co/8T5RaacnTj pic.twitter.com/vIhg9IGhRv
— BMC Medicine (@BMCMedicine) November 8, 2022
Cohort Study | Prognostic prediction of genotype vs. phenotype in genetic cardiomyopathies.
23 Nov, 2022 | 13:57h | UTC
Commentary on Twitter
We are out with our last big work on the importance of genotype for the prognostic stratification of Cardiomyopathies! @CardiologyASUGI @Trieste_Denver @JACCJournals @PaldinoAlessia https://t.co/82byVNnUhK pic.twitter.com/KYoxDXkzr6
— matteo dal ferro (@matteodalferro) November 17, 2022
Under a Creative Commons license
RCT | Leniolisib for Activated phosphoinositide 3-kinase delta syndrome.
22 Nov, 2022 | 13:12h | UTC
Case-control study | Risk variants in the exomes of children with critical illness.
10 Nov, 2022 | 13:52h | UTCRisk Variants in the Exomes of Children With Critical Illness – JAMA Network Open
Risk reduction and screening of cancer in hereditary breast-ovarian cancer syndromes: ESMO Clinical Practice Guideline.
31 Oct, 2022 | 13:50h | UTC
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