Genetics
[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)
WHO Statement on Governance and Oversight of Human Genome Editing
11 Aug, 2019 | 21:38h | UTCStatement on governance and oversight of human genome editing – World Health Organization (free)
Commentary: WHO Releases Statement Condemning Further Germline Genome Editing – Frontline Genomics (free)
Related: WHO Expert Panel Paves Way for Strong International Governance on Human Genome Editing (free)
Study: “Liquid Biopsy” for Detection of Residual Disease after Neoadjuvant Therapy in Breast Cancer
11 Aug, 2019 | 21:30h | UTCPersonalized circulating tumor DNA analysis to detect residual disease after neoadjuvant therapy in breast cancer – Science Translational Medicine (free for a limited period)
Commentaries: New ‘liquid biopsy’ blood test improves breast cancer diagnostics – The Translational Genomics Research Institute (free) AND Circulating Tumor DNA Analysis for Detection of Residual Disease in Breast Cancer – The ASCO Post (free) AND Expert reaction to blood test to help tailor treatment for breast cancer patients – Science Media Centre (free)
Study: “Liquid Biopsy” for Relapse Detection in Early-Stage Breast Cancer
11 Aug, 2019 | 21:31h | UTCAssessment of Molecular Relapse Detection in Early-Stage Breast Cancer – JAMA Oncology (free for a limited period)
Commentaries: Circulating Tumor DNA as a Marker for Disease Relapse in Early-Stage Breast Cancer—Bad Blood – JAMA Oncology (free for a limited period) AND Liquid Biopsy in Breast Ca Finds Relapse Early – MedPage Today (free registration required)
Series from the Lancet Journals: Genomic Medicine
7 Aug, 2019 | 01:05h | UTCSeries from the Lancet journals: Genomic medicine – The Lancet (free articles – registration required)
Related Commentary on Twitter
Just published: A new 5-paper Series, with contributions from @genome_gov, focuses on the exciting and maturing area of #genomicmedicine, encompassing the use of individuals’ genetic information to guide clinical treatment https://t.co/5Wc3jkJAsy pic.twitter.com/Y1wfKtscu8
— The Lancet (@TheLancet) August 6, 2019
ESMO Guideline: Hereditary Gastrointestinal Cancers
7 Aug, 2019 | 01:15h | UTCRelated: ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes (free)
Perspective: Should the Rich Be Allowed to Buy the Best Genes?
29 Jul, 2019 | 20:02h | UTCShould the Rich Be Allowed to Buy the Best Genes? – Air Mail (free)
Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer
25 Jul, 2019 | 01:20h | UTC
Autism: Large Study Suggests Genetics Account for 80% of the Risk
23 Jul, 2019 | 01:39h | UTCAssociation of Genetic and Environmental Factors With Autism in a 5-Country Cohort – JAMA Psychiatry (free for a limited period)
Editorial: The Architecture of Autism Spectrum Disorder Risk: What Do We Know, and Where Do We Go From Here? (free)
Commentaries: Genetic factors are primary cause of autism, study finds – UPI (free) AND Study provides ‘strongest evidence’ yet for autism being a genetic condition – News Medical (free) AND A new study reinforces the conclusion that autism is primarily genetic – Science Based Medicine (free)
Study: Health Lifestyle May Reduce the Incidence of Dementia Even in Patients with High Genetic Risk
16 Jul, 2019 | 09:42h | UTCAssociation of Lifestyle and Genetic Risk With Incidence of Dementia – JAMA (free for a limited period)
Commentaries: Healthy lifestyle reduces dementia risk even in those with genetic risk factors – NHS Choices (free) AND Healthy lifestyle may offset genetic risk of dementia – University of Exeter (free) AND Genes vs. lifestyle: Study ‘undermines fatalistic view of dementia’ – Medical News Today (free) AND Healthy living may help offset genetic risk of dementia: study – Reuters (free) AND Healthy lifestyle may cut risk of dementia regardless of genes – The Guardian (free)
High Iron Status Could Lead to Greater Risk of Bacterial Skin Infections
21 Jun, 2019 | 07:43h | UTCCommentary: High on iron? It stops anaemia but has a downside – University of South Australia (free)
Study: Targeting Huntingtin Expression in Patients with Huntington’s Disease
13 May, 2019 | 01:12h | UTCTargeting Huntingtin Expression in Patients with Huntington’s Disease – New England Journal of Medicine (link to abstract – $ for full-text)
Commentaries: Experimental Drug For Huntington’s Disease Jams Malfunctioning Gene – NPR (free) AND Huntington drug successfully lowers levels of disease-causing protein, study shows – University of British Columbia (free)
A Multidisciplinary Approach to the Clinical Management of Prader–Willi Syndrome
12 May, 2019 | 21:33h | UTC
AAP Clinical Report: Health Supervision for Children With Neurofibromatosis Type 1
11 May, 2019 | 14:22h | UTCHealth Supervision for Children With Neurofibromatosis Type 1 – Pediatrics (free)
News Release: AAP Updates Clinical Advice on Treating Children with Genetic Disorder, Neurofibromatosis Type 1 – American Academy of Pediatrics (free)
Consensus: Management of Gynecological Cancers in Lynch Syndrome
6 May, 2019 | 22:21h | UTC
Guideline: Monitoring Children and Young People with, Or at Risk of Developing Autosomal Dominant Polycystic Kidney Disease
6 May, 2019 | 22:14h | UTC