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Genetics

[Abstract Only] Study: The Prevalence of Hemophilia is Higher than Previously Estimated

24 Sep, 2019 | 07:49h | UTC

Establishing 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

NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019 – Journal of the National Comprehensive Cancer Network (free)

 


Study: Genetic Exposure to Lower Levels of LDL Cholesterol and Systolic Blood Pressure are Associated with Lower Cardiovascular Risk

5 Sep, 2019 | 08:13h | UTC

Association 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 | UTC

Study Finds No ‘Gay Gene,’ But Some Question Whether The Search Should Have Started At All – CommonHealth (free)

Original 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

Effects of Genetically Determined Iron Status on Risk of Venous Thromboembolism and Carotid Atherosclerotic Disease: A Mendelian Randomization Study – Journal of the American Heart Association (free)

 


Meta-Analysis: Quality of Dietary Fat and Genetic Risk of Type 2 Diabetes

25 Aug, 2019 | 21:07h | UTC

Quality of dietary fat and genetic risk of type 2 diabetes: individual participant data meta-analysis – The BMJ (free)

Commentaries: 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 | UTC

High 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 | UTC

Heterocellular gene signatures reveal luminal-A breast cancer heterogeneity and differential therapeutic responses – npj Breast Cancer (free)

Commentary: 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 | UTC

Association 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 | UTC

Management 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 | UTC

Statement 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 | UTC

Personalized 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 | UTC

Assessment 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 | UTC

Series from the Lancet journals: Genomic medicine – The Lancet (free articles – registration required)

 

Related Commentary on Twitter

 


ESMO Guideline: Hereditary Gastrointestinal Cancers

7 Aug, 2019 | 01:15h | UTC

Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up – Annals of Oncology (free PDF)

Related: 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 | UTC

Should 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

Consensus Guidelines on Genetic Testing for Hereditary Breast Cancer from the American Society of Breast Surgeons – Annals of Surgical Oncology (free)

 


Autism: Large Study Suggests Genetics Account for 80% of the Risk

23 Jul, 2019 | 01:39h | UTC

Association 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 | UTC

Association 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 | UTC

Associations of genetically determined iron status across the phenome: A mendelian randomization study – PLOS Medicine (free)

Commentary: 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 | UTC

Targeting 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

A multidisciplinary approach to the clinical management of Prader–Willi syndrome – Molecular Genetics & Genomics Medicine (free)

 


AAP Clinical Report: Health Supervision for Children With Neurofibromatosis Type 1

11 May, 2019 | 14:22h | UTC

Health 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

The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome – Genetics in Medicine (free)

 


Guideline: Monitoring Children and Young People with, Or at Risk of Developing Autosomal Dominant Polycystic Kidney Disease

6 May, 2019 | 22:14h | UTC

Clinical practice guideline: monitoring children and young people with, or at risk of developing autosomal dominant polycystic kidney disease (ADPKD) – BMC Nephrology (free)

 


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