Genetics & Rare Diseases
Randomized Trial: Cancer Prevention with Aspirin in Hereditary Colorectal Cancer (Lynch syndrome)
12 Jun, 2020 | 09:04h | UTCInvited Commentary: Aspirin for Lynch syndrome: a legacy of prevention – The Lancet
Guidelines for the Management of Hereditary Colorectal Cancer
16 Apr, 2020 | 02:28h | UTC
[Abstract Only] Study: Selumetinib in Children with Inoperable Plexiform Neurofibromas
23 Mar, 2020 | 00:49h | UTCSelumetinib in Children with Inoperable Plexiform Neurofibromas – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: In NIH trial, selumetinib shrinks tumors, provides clinical benefit for children with NF1 – NIH News Releases (free)
Review: α1-Antitrypsin Deficiency and Chronic Respiratory Disorders
23 Feb, 2020 | 21:16h | UTCα1-Antitrypsin deficiency and chronic respiratory disorders – European Respiratory Review (free)
Studies: Little Benefit from Polygenic Risk Score vs. Clinical Risk Score for Predicting Cardiovascular Risk
19 Feb, 2020 | 10:19h | UTCPredictive Accuracy of a Polygenic Risk Score Compared with a Clinical Risk Score for Incident Coronary Heart Disease – JAMA (free for a limited period)
Related Study: Predictive Accuracy of a Polygenic Risk Score–Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease – JAMA (free for a limited period)
Editorial: Do Polygenic Risk Scores Improve Patient Selection for Prevention of Coronary Artery Disease? (free)
Commentary: Gene tests for heart disease risk have limited benefit – Imperial College London (free)
Perspective: Step Aside CRISPR, RNA Editing is Taking Off
11 Feb, 2020 | 01:55h | UTCStep aside CRISPR, RNA editing is taking off – Nature (free)
Global Genomics Project Unravels Cancer’s Complexity at Unprecedented Scale
6 Feb, 2020 | 02:08h | UTCGlobal genomics project unravels cancer’s complexity at unprecedented scale – Nature (free)
Editorial: The era of massive cancer sequencing projects has reached a turning point – Nature (free)
Commentaries: Landmark study to transform cancer treatment – BBC (free) AND Diving deep in the genomes of cancer – eCancer News (free)
See Articles:
– Pan-cancer analysis of whole genomes – Nature (free)
– Analyses of non-coding somatic drivers in 2,658 cancer whole genomes – Nature (free)
– The repertoire of mutational signatures in human cancer – Nature (free)
– Patterns of somatic structural variation in human cancer genomes – Nature (free)
– The evolutionary history of 2,658 cancers – Nature (free)
– Genomic basis for RNA alterations in cancer – Nature (free)
BSH Guideline: Laboratory Diagnosis of G6PD Deficiency
30 Jan, 2020 | 07:36h | UTC
[Abstract Only] Study: Long-term Follow Up of Gene Therapy for Hemophilia A
8 Jan, 2020 | 00:52h | UTCMultiyear Follow-up of AAV5-hFVIII-SQ Gene Therapy for Hemophilia A – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: Study shows safety, long-term beneficial impact of gene therapy for patients with Hemophilia A – Queen Mary University of London (free)
Guidelines for the Management of Hereditary Colorectal Cancer
4 Dec, 2019 | 08:28h | UTCRelated Guidelines: Clinical Practice Guideline on Screening for Colorectal Cancer in Individuals With a Family History of Nonhereditary Colorectal Cancer or Adenoma: The Canadian Association of Gastroenterology Banff Consensus – Gastroenterology (free) AND Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline – Endoscopy (free)
[Abstract Only] Study: Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry
8 Nov, 2019 | 06:42h | UTCDistinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry – Journal of the American College of Cardiology (link to abstract – $ for full-text)
Commentaries: World’s most comprehensive study of a deadly heart condition yields 1st results – University of Virginia Health System (free) AND Hypertrophic Cardiomyopathy Registry Subgroups – American College of Cardiology (free)
Related Commentary on Twitter
Are there subgroups in the hypertrophic #cardiomyopathy population? New #JACC study looks at #cvImaging characteristics using data from the HCMR registry. https://t.co/hImlr841RB @ChrisKramerMD @CardioUva pic.twitter.com/JyLlRh6uP9
— JACC Journals (@JACCJournals) November 6, 2019
[Abstract Only] Randomized Trial: Triple Therapy Effective for the Treatment of Cystic Fibrosis
1 Nov, 2019 | 10:22h | UTCElexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele – New England Journal of Medicine (link to abstract – $ for full-text)
Editorial: Realizing the Dream of Molecularly Targeted Therapies for Cystic Fibrosis (free)
Related Research: Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial – The Lancet (link to abstract – $ for full-text)
Commentary: Three-drug combo improves lung function in most common genetic form of cystic fibrosis – UT Southwestern Medical Center (free)
Related Commentary on Twitter
Triple treatment of CF patients with one Phe508del allele and one minimal function allele with elexacaftor, tezacaftor and ivacaftor resulted in sustained improvement in FEV1, sweat chloride, and the number of pulmonary exacerbations. #NACFC https://t.co/ATeGlBUWCp
— NEJM (@NEJM) October 31, 2019
Study: Pan-cancer Whole-genome Analyses of Metastatic Solid Tumors
25 Oct, 2019 | 08:41h | UTCPan-cancer whole-genome analyses of metastatic solid tumours – Nature (free)
Commentaries: Huge whole-genome study of human metastatic cancers – Nature (free) AND Whole-genome study of metastatic tumors provides a catalog of genetic features of metastatic cancer – MedicalXpress (free)
[Abstract Only] Super-precise New CRISPR Tool Could Tackle a Plethora of Genetic Diseases
22 Oct, 2019 | 08:03h | UTCSuper-precise new CRISPR tool could tackle a plethora of genetic diseases – Nature News (free)
Original Article: Search-and-replace genome editing without double-strand breaks or donor DNA – Nature (link to abstract – $ for full-text)
See also: New CRISPR genome editing system offers a wide range of versatility in human cells – Broad Institute of MIT and Harvard (free) AND Prime editing: DNA tool could correct 89% of genetic defects – BBC (free) AND New CRISPR tool has the potential to correct almost all disease-causing DNA glitches, scientists report – STAT (free)
Related: Simple guide to CRISPR, one of the biggest science stories of the decade – VOX (free)
Systematic Review of Guidelines: Non-pharmacological Interventions for Osteoporosis Treatment
14 Oct, 2019 | 08:32h | UTC
[Abstract Only] Study: The Prevalence of Hemophilia is Higher than Previously Estimated
24 Sep, 2019 | 07:49h | UTCEstablishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries – Annals of Internal Medicine (link to abstract – $ for full-text)
Commentaries: Hemophilia three times more prevalent than thought – McMaster University (free) AND 1,125,000 Men/Boys Expected to Have Hemophilia Worldwide – Clinical Advisor (free) AND Prevalence of Hemophilia Worldwide Is Triple That of Previous Estimates, New Study Says – AJMC (free)
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment of Colorectal Cancer
10 Sep, 2019 | 01:19h | UTC
Study: Genetic Exposure to Lower Levels of LDL Cholesterol and Systolic Blood Pressure are Associated with Lower Cardiovascular Risk
5 Sep, 2019 | 08:13h | UTCAssociation of Genetic Variants Related to Combined Exposure to Lower Low-Density Lipoproteins and Lower Systolic Blood Pressure With Lifetime Risk of Cardiovascular Disease – JAMA (free for a limited period)
Commentary: Sustained drop in cholesterol and blood pressure reduces lifetime risk of heart, circulatory diseases – News Medical (free)
Study Finds No ‘Gay Gene,’ But Some Question Whether the Search Should Have Started At All
3 Sep, 2019 | 01:18h | UTCOriginal Study: Large-scale GWAS reveals insights into the genetic architecture of same-sex sexual behavior – Science (free for a limited period)
Other commentaries: No ‘gay gene’: Massive study homes in on genetic basis of human sexuality – Nature (free) AND Genetics may explain up to 25% of same-sex behavior, giant analysis reveals – Science (free) AND Search For ‘Gay Genes’ Comes Up Short In Large New Study – NPR (free) AND Many Genes Influence Same-Sex Sexuality, Not a Single ‘Gay Gene’ – The New York Times (10 articles per month are free) AND No single gene associated with being gay – BBC (free)
Mendelian Randomization Study: Genetically Determined Iron Status on Risk of Venous Thromboembolism and Carotid Atherosclerotic Disease
25 Aug, 2019 | 21:28h | UTC
Meta-Analysis: Quality of Dietary Fat and Genetic Risk of Type 2 Diabetes
25 Aug, 2019 | 21:07h | UTCCommentaries: Interventions for type 2 diabetes successful across the genetic landscape – Massachusetts General Hospital (free) AND Genetics no barrier to dietary modification benefits on type 2 diabetes risk – medwire News (free)
Study: High Prevalence of Celiac Disease Among Screened First-Degree Relatives
23 Aug, 2019 | 08:33h | UTCHigh Prevalence of Celiac Disease Among Screened First-Degree Relatives – Mayo Clinic Proceedings (free for a limited period)
Commentary: Study calls for screening of all first-degree relatives of celiac disease patients – News Medical (free)
Precision Medicine in Breast Cancer: Scientists Have used Artificial Intelligence to Identified Gene Sequences and Molecular Data Patterns that May Predict Response to Different Treatments
18 Aug, 2019 | 21:39h | UTCCommentary: AI reveals new breast cancer types that respond differently to treatment – Institute of Cancer Research (free)
Study: High Gluten Intake During Childhood May Increase the Risk of Celiac Disease in Genetically Predisposed Children
15 Aug, 2019 | 08:12h | UTCAssociation of Gluten Intake During the First 5 Years of Life With Incidence of Celiac Disease Autoimmunity and Celiac Disease Among Children at Increased Risk – JAMA (free for a limited period)
Editorial: Gluten and Celiac Disease Risk: Is It Just a Matter of Quantity? (free for a limited period)
Commentaries: Association between coeliac disease risk and gluten intake confirmed – Lund University (free) High Gluten Diet Adds to Risk of Celiac Disease In Genetically Predisposed Children – MedicalResearch.com (free) AND Eating more gluten early in life is tied to children’s higher risk of celiac disease, a study says – CNN (free)
Review: Management of Ovarian Cancer Risk in Women with BRCA1/2 pathogenic variants
13 Aug, 2019 | 05:23h | UTCManagement of ovarian cancer risk in women with BRCA1/2 pathogenic variants – Canadian Medical Association Journal (free for a limited period)
Commentaries: Review Offers Guidance on Managing Ovarian Cancer Risk in BRCA Mutation Carriers – NEJM Journal Watch (free) AND Managing ovarian cancer risk in women with BRCA1/2 genetic variants – Joule Inc. (free)
Related: USPSTF Draft Statement: BRCA-Related Cancer Risk Assessment, Genetic Counseling, and Genetic Testing (free draft statement and commentaries) AND Prevention and screening in BRCA mutation carriers and other breast/ovarian hereditary cancer syndromes: ESMO Clinical Practice Guidelines for cancer prevention and screening (free) AND Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers (free study and commentaries)