Genetics
Clinical Trial Update | Long-term Givosiran treatment shows sustained acute hepatic porphyria symptom improvement
8 Aug, 2023 | 13:05h | UTCOriginal Study: Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria – New England Journal of Medicine
Opinion | Regulating direct-to-consumer polygenic risk scores
7 Aug, 2023 | 14:59h | UTCRegulating Direct-to-Consumer Polygenic Risk Scores – JAMA (free for a limited period)
Systematic Review | Rapamycin and rapalogs for tuberous sclerosis complex
25 Jul, 2023 | 13:43h | UTCRapamycin and rapalogs for tuberous sclerosis complex – Cochrane Library
Comparative Study | Genomic sequencing yields higher diagnostic results than targeted neonatal gene test in suspected genetic disorders
17 Jul, 2023 | 13:36h | UTCRapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder – JAMA (link to abstract – $ for full-text)
Author Interview: Genomic Sequencing for Ill Newborns – JAMA
News Release: Genome sequencing highly effective at diagnosing genetic disorders in newborns and infants – Tufts University
Commentary on Twitter (thread – click for more)
1/n With respect to my colleagues involved in the GEMINI study that was just published, I am worried about the danger of a major message from this report:https://t.co/hkUeRd2nsb
— John Greally (@greally) July 14, 2023
Impact of newborn screening on severe combined immunodeficiency survival: results from a 36-year longitudinal study
14 Jul, 2023 | 12:45h | UTCMeasuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium – The Lancet (link to abstract – $ for full-text)
Commentary on Twitter
Findings from a 36-year longitudinal study provide direct evidence that newborn screening for SCID has been the primary driver of improved survival in new-born babies in the USA and Canada since 2010.
Read the full article: https://t.co/TAAcPztpF9 pic.twitter.com/cOxvNNJmb9
— The Lancet (@TheLancet) July 12, 2023
Case Series | Ambroxol therapy improves hematologic parameters in Gaucher disease patients
11 Jul, 2023 | 13:42h | UTCUse of Ambroxol as Therapy for Gaucher Disease – JAMA Network Open
Editorial: Ambroxol as Therapy for Gaucher Disease—Ambitious but Ambivalent – JAMA Network Open
Commentary: Ambroxol Repurposing Improves Biochemical Markers in Gaucher Disease – HCP Live
Consensus Statement | Evaluation and management of deficiency of adenosine deaminase 2
30 Jun, 2023 | 14:53h | UTCInvited Commentary: Finding a Quorum in Deficiency of Adenosine Deaminase 2 Management – JAMA Network Open
Cohort Study | Coronary artery calcium score superior to polygenic score for CHD risk prediction
7 Jun, 2023 | 13:51h | UTCCoronary Artery Calcium Score and Polygenic Risk Score for the Prediction of Coronary Heart Disease Events – JAMA (link to abstract – $ for full-text)
News Release: CT scan best at predicting heart disease risk in middle age: Scan beats genetics to gauge risk – Northwestern University
ASH 2023 Guidelines for management of venous thromboembolism | Thrombophilia testing
1 Jun, 2023 | 12:22h | UTC
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