Genetics
Review | Gene Therapy for Hemophilia — Opportunities and Risks
21 Mar, 2023 | 13:25h | UTCGene Therapy for Hemophilia—Opportunities and Risks – Deutsches Ärzteblatt International
Single-arm study | Inaxaplin reduces proteinuria in patients with APOL1 variants and focal segmental glomerulosclerosis
21 Mar, 2023 | 13:11h | UTCInaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: Inaxaplin Reduces Proteinuria in FSGS With APOL1 Variants – Renal & Urology News
Commentary on Twitter
Original Article: Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants https://t.co/QHcvbYEmiz #nephrology #CKD pic.twitter.com/SLspl6Vagn
— NEJM (@NEJM) March 17, 2023
Review | Diseases affecting middle-aged and elderly individuals with trisomy 21
20 Mar, 2023 | 13:44h | UTC
Single-arm study | Gene therapy with Etranacogene Dezaparvovec for Hemophilia B
9 Mar, 2023 | 14:07h | UTCGene Therapy with Etranacogene Dezaparvovec for Hemophilia B – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: Gene Therapy Beneficial for Patients With Hemophilia B – HealthDay
Review | Preoperative frailty screening, assessment and management
16 Feb, 2023 | 14:37h | UTCPreoperative frailty screening, assessment and management – Current Opinion in Anaesthesiology
RCT | Effects of Bardoxolone Methyl in Alport Syndrome
9 Feb, 2023 | 13:43h | UTC
Commentary on Twitter (thread – click for more)
✳️ #TenTweetNephJC ✳️
This week CARDINAL – the largest ever RCT in patients with Alport Syndrome ?? pic.twitter.com/wrAxJoz1GJ
— Nephrology Journal Club (@NephJC) January 28, 2023
Evaluation of a 12-gene pharmacogenetic panel to prevent adverse drug reactions
7 Feb, 2023 | 14:13h | UTCA 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study – The Lancet (link to abstract – $ for full-text)
News Releases:
Matching medication to DNA leads to 30% fewer side effects – University of Liverpool
Genetic analysis can reduce adverse drug reactions by 30 per cent – Karolinska Institutet
Commentary from one of the authors on Twitter
A journey which started in 2016 has led to the publication of the #PREPARE study in @TheLancet today. In this #randomised study, we show that a 12-gene panel can reduce #adverse_effects by 30%. https://t.co/vj7gYzgxyf @CDSS_Liverpool @pandtuol pic.twitter.com/tjgFWDuTQf
— Munir Pirmohamed (@MPUoL) February 3, 2023
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