Genetics
RCT | Effectiveness of genotype-specific tricyclic antidepressant dosing in patients with major depressive disorder
23 May, 2023 | 12:52h | UTC
Commentary on Twitter
Genotype-guided tricyclic antidepressant dosing may help patients with depression reach faster therapeutic plasma concentrations, with potentially fewer adverse effects. https://t.co/06cIaQjmwV pic.twitter.com/ZBdXZLeWc3
— JAMA Network Open (@JAMANetworkOpen) May 8, 2023
Review | Hereditary colorectal, gastric, and pancreatic cancer
18 May, 2023 | 13:43h | UTCHereditary colorectal, gastric, and pancreatic cancer: comprehensive review – BJS Open
Commentary on Twitter
Have a🔎at our latest comprehensive review covering all u need to know📜about hereditary 🧬colorectal, gastric & pancreatic🦀! https://t.co/y1LL0DNRiy@Adductor @DrRABurkhart #SoMe4Surgery #StepUp4CRC #SurgEd #MedTwitter @BJSAcademy @BJSurgery @juliomayol @young_bjs Great read! pic.twitter.com/JmmOmMBydO
— BJS Open (@BjsOpen) May 11, 2023
M-A | Quality of life after risk-reducing surgery for breast and ovarian cancer prevention
9 May, 2023 | 14:21h | UTC
Review | Lynch syndrome genetics and clinical implications
4 May, 2023 | 13:24h | UTCLynch syndrome genetics and clinical implications – Gastroenterology
Cohort Study | Risk of multiple morbidities across the lifespan in people with Down syndrome or intellectual disabilities
28 Apr, 2023 | 13:19h | UTC
Commentary from the author on Twitter (thread – click for more)
Our new report on Multiple morbidity across the lifespan in people with Down syndrome or intellectual disability is out today https://t.co/wkakUfjetn pic.twitter.com/fVyKZZPdOW
— Andre Strydom (@drandrestrydom) April 27, 2023
Large-scale study finds genetic causes for 41% of rare pediatric diseases
18 Apr, 2023 | 13:25h | UTCGenomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland – New England Journal of Medicine (free for a limited period)
News Release: 5,500 people diagnosed with rare genetic diseases in major research study – University of Exeter
Commentary on Twitter
The DDD study recruited more than 13,500 families with probands with severe, probably monogenic disorders in the United Kingdom and Ireland and obtained a genetic diagnosis in approximately 41% of probands. https://t.co/W3pfg5HPEZ pic.twitter.com/eGb2yNsGBf
— NEJM (@NEJM) April 12, 2023
Phase 2 RCT | Dersimelagon in erythropoietic protoporphyrias
17 Apr, 2023 | 13:05h | UTCDersimelagon in Erythropoietic Protoporphyrias – News England Journal of Medicine (link to abstract – $ for full-text)
Commentary on Twitter
In a phase 2 trial, once-daily oral treatment with dersimelagon safely improved tolerance to sun exposure in patients with erythropoietic protoporphyria and X-linked protoporphyria. https://t.co/peZye8R5T7 pic.twitter.com/DO2HmKkM1f
— NEJM (@NEJM) April 12, 2023
Cohort Study | Cancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer
17 Apr, 2023 | 12:57h | UTCCancer surveillance as an alternative to prophylactic total gastrectomy in hereditary diffuse gastric cancer: a prospective cohort study – The Lancet Oncology (link to abstract – $ for full-text)
Commentary: Endoscopic Surveillance in Patients at Risk for Hereditary Diffuse Gastric Cancer – The ASCO Post
Cohort Study | Value of screening for the risk of sudden cardiac death in young competitive athletes
12 Apr, 2023 | 13:11h | UTC
AAP Clinical Report | Health supervision for children and adolescents with Marfan syndrome
10 Apr, 2023 | 13:51h | UTCHealth Supervision for Children and Adolescents With Marfan Syndrome – Pediatrics
Commentary on Twitter
This @AmerAcadPeds clinical report is designed to assist pediatricians in recognizing the features of Marfan syndrome as well as caring for the individual with Marfan syndrome to maximize their health and quality of life: https://t.co/xo9m303yhJ #Pediatrics pic.twitter.com/L5USU0CdxJ
— AAP Pediatrics (@aap_peds) March 21, 2023
Review | Comprehensive care of women with genetic predisposition to breast and ovarian cancer
5 Apr, 2023 | 13:32h | UTC
Gastric Cancer: the combined impact of H. pylori infection and pathogenic gene variants
3 Apr, 2023 | 13:51h | UTCHelicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: H. Pylori Infection Negatively Modifies Genetically Increased Risk for Gastric Cancer – Physician’s Weekly
Commentary on Twitter
Infection with Helicobacter pylori is known to confer a risk of gastric cancer. In this study, persons who carried certain genetic variants and were infected with H. pylori had an excess risk of gastric cancer. https://t.co/jIcUiYu14G#genetics pic.twitter.com/jY4H1Mq6dO
— NEJM (@NEJM) March 29, 2023
RCT | Efficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention
31 Mar, 2023 | 13:26h | UTCEfficacy and safety of garadacimab, a factor XIIa inhibitor for hereditary angioedema prevention (VANGUARD): a global, multicentre, randomised, double-blind, placebo-controlled, phase 3 trial – The Lancet (link to abstract – $ for full-text)
Commentary on Twitter (thread – click for more)
Hereditary angioedema is a rare disease associated with unpredictable, recurrent angioedema attacks that can be life-threatening.
New study data support the use of garadacimab as a potential prophylactic therapy in adolescents and adults: https://t.co/xlxoA3J3sh 🧵 pic.twitter.com/VqCOHnaQAp
— The Lancet (@TheLancet) March 6, 2023
SR | Extracutaneous features and complications of the Ehlers-Danlos syndromes
30 Mar, 2023 | 13:41h | UTC
AHA Scientific Statement | Interpreting incidentally identified variants in genes associated with heritable cardiovascular disease
28 Mar, 2023 | 15:12h | UTCNews Release: Genetic tests unexpectedly find genes linked to heart disease — now what? – AHA Newsroom
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)