Genetics & Rare Diseases
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)
Opinion | Secrecy: a demon of gene therapy’s past bedevils its future.
12 Jul, 2022 | 12:31h | UTCSecrecy: A demon of gene therapy’s past bedevils its future – STAT
RCT | Odevixibat treatment in progressive familial intrahepatic cholestasis.
6 Jul, 2022 | 11:35h | UTCInvited Commentary: The first new drug for progressive familial intrahepatic cholestasis – The Lancet Gastroenterology & Hepatology (free registration required)
Commentary on Twitter
New research – Thompson et al – Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial (PEDFIC 1)https://t.co/hPLmPLMcDt#livertwitter #cholestasis #PFIC pic.twitter.com/oUMMh1H0kv
— The Lancet Gastroenterology & Hepatology (@LancetGastroHep) July 1, 2022
Arrhythmic risk prediction in arrhythmogenic right ventricular cardiomyopathy: external validation of the arrhythmogenic right ventricular cardiomyopathy risk calculator.
5 Jul, 2022 | 11:29h | UTCEditorial: Arrhythmogenic right ventricular cardiomyopathy: the never-ending quest for a risk calculator
Cohort Study | Novel risk prediction model to determine adverse heart failure outcomes in arrhythmogenic right ventricular cardiomyopathy.
4 Jul, 2022 | 11:53h | UTCEditorial: Predicting Heart Failure in Arrhythmogenic Right Ventricular Cardiomyopathy
Genome-wide association analysis and replication in 810,625 individuals with varicose veins.
30 Jun, 2022 | 10:18h | UTCNews Release: Oxford’s largest ever study into varicose veins shows need for surgery is linked to genetics – University of Oxford
Commentary on Twitter
@WaheedURAhmed1 and colleagues find genetic variants associated with varicose veins and show that a higher polygenic risk score for varicose veins correlates with a greater likelihood of patients undergoing surgical treatment. https://t.co/9H7u017RE4 @DominicFurniss
— Nature Communications (@NatureComms) June 8, 2022
Indications and utility of cardiac genetic testing in athletes.
28 Jun, 2022 | 11:03h | UTC
Phase 2 single-arm study: Fazirsiran for liver disease associated with Alpha1-Antitrypsin deficiency.
27 Jun, 2022 | 11:19h | UTCFazirsiran for Liver Disease Associated with Alpha1-Antitrypsin Deficiency – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary on Twitter
In this small trial in adults with ATT deficiency, fazirsiran was associated with a strong reduction of mutant AAT levels in the serum and liver and concurrent improvements in liver enzyme levels. #ILC2022 https://t.co/RibsKzOQfO pic.twitter.com/BnMcSyfVcq
— NEJM (@NEJM) June 25, 2022
Single-arm phase 3 Trial: Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy.
20 Jun, 2022 | 01:04h | UTC
Commentary on Twitter
For infants with three copies of #SMN1 at risk for #SMA type 1, onasemnogene abeparvovec improves ventilator-free survival and nutritional/respiratory independence and allows motor development similar to healthy children without SMA. #2022SMAConferencehttps://t.co/tIsR1fByNK
— Nature Medicine (@NatureMedicine) June 17, 2022
Consensus Recommendation: Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis.
15 Jun, 2022 | 10:56h | UTC
ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility.
14 Jun, 2022 | 10:59h | UTCCommentary: New guidelines for pancreatic cancer screening – Beth Israel Deaconess Medical Center
Commentary on Twitter
Sawhney et al share "ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations." https://t.co/P6OtmhXr2D pic.twitter.com/vDHWfKCAiN
— GIE (@GIE_Journal) May 26, 2022
One in 500 men carry extra sex chromosome, putting them at higher risk of several common diseases.
13 Jun, 2022 | 10:35h | UTCNews Release: One in 500 men carry extra sex chromosome, putting them at higher risk of several common diseases – University of Cambridge
Original Study: Detection and characterization of male sex chromosome abnormalities in the UK Biobank study – Genetics in Medicine
Commentary: One in 500 men carry extra sex chromosome, research suggests – The Guardian
Commentary on Twitter
Interesting work looking at the prevalence of male sex chromosomal abnormalities in UK Biobank.
"Only 49 of 213 (23%) of men whom we identified with KS and only 1 of 143 (0.7%) with 47,XYY had a diagnosis of abnormal karyotype on their medical records or self-report." https://t.co/3VKh2rqxyn
— Veera Rajagopal (@doctorveera) June 11, 2022
Study shows a person’s height impacts their risk of multiple diseases.
9 Jun, 2022 | 11:34h | UTCNews Release: A person’s height impacts their risk of multiple diseases – Public Library of Science
Original Study: A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program – PLOS Genetics