Genetics
Guideline: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency
5 Oct, 2018 | 02:27h | UTCNews Release: Managing congenital adrenal hyperplasia requires shared decisions among patients, families, and heal – The Endocrine Society (free)
AHA Guideline: Cardiovascular Health in Turner Syndrome
28 Sep, 2018 | 01:05h | UTCCommentary: Cardiovascular Health in Turner Syndrome – No Small Task (free)
Top Ten Things to Know: Cardiovascular Health in Turner Syndrome (free PDF)
Cohort Study: Risk of Dementia by Age, Sex and APOE Genotype
27 Sep, 2018 | 22:20h | UTC
Study: Genetic Analysis of Over 1 million People Identifies 535 Genes Associated with Blood Pressure Traits
21 Sep, 2018 | 02:05h | UTCGenetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits – Nature Genetics (link to abstract – $ for full-text)
Commentaries: World’s biggest study of blood pressure genetics – Queen Mary University of London (free) AND Researchers find 535 new gene regions that influence blood pressure – UPI (free) AND High blood pressure breakthrough: Over 500 genes uncovered – Medical News Today (free)
Review: Why, When and How to Investigate Primary Ciliary Dyskinesia in Adult Patients with Bronchiectasis
2 Sep, 2018 | 02:07h | UTC
Review: When and How Ruling out Cystic Fibrosis in Adult Patients with Bronchiectasis
2 Sep, 2018 | 02:06h | UTC
Perspective: How Scientists are Learning to Predict Your Future with Your Genes
23 Aug, 2018 | 23:51h | UTCHow scientists are learning to predict your future with your genes – VOX (free) (via @EricTopol)
“There’s not one light switch but hundreds, each with the ability to slightly increase or decrease the chances of developing the illness.”
Study: Polygenic Scores for Common Diseases Identify Individuals with Risk Equivalent to Monogenic Mutations
17 Aug, 2018 | 02:09h | UTCGenome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations – Nature Genetics (link to abstract – $ for full-text)
Commentaries: Researchers predict risk for common deadly diseases from millions of genetic variants – Broad Institute of MIT and Harvard, ScienceDaily (free) AND Clues to Your Health Are Hidden at 6.6 Million Spots in Your DNA – The New York Times (10 articles per month are free) AND Multi-gene test may find risk for heart disease and more – Associated Press (free) AND A Harvard Scientist Thinks He Has a Gene Test for Heart Attack Risk. He Wants to Give It Away Free – Forbes (free)
Review: Genetic Testing and Counseling After Sudden Cardiac Death
16 Aug, 2018 | 23:06h | UTC
Consensus: Diagnosis and Follow-up of Patients with Hunter Syndrome
26 Jul, 2018 | 17:35h | UTCDiagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus – Medicine (free)
CRISPR: Edited Cells Might Cause Cancer, Find Two Studies
15 Jun, 2018 | 01:48h | UTCA serious new hurdle for CRISPR: Edited cells might cause cancer, find two studies – STAT (free)
Related: Genome-editing tool could increase cancer risk – eCancer News (free) AND Gene editing tool may raise cancer risk in cells, scientists warn – Reuters (free) AND Expert reaction to using CRISPR/Cas9 and potential cancer risk in cells – Science Media Centre (free)
Perspective: Scientists Can Design ‘Better’ Babies. Should They?
15 Jun, 2018 | 01:10h | UTCScientists Can Design ‘Better’ Babies. Should They? – The New York Times (10 articles per month are free)
ASCO 2018: Many Women with Early-Stage Breast Cancer Can Forgo Chemotherapy When Guided by a 21-Gene Expression Assay
7 Jun, 2018 | 02:23h | UTCCommentaries: 2018 ASCO: TAILORx: Most Women With Early-Stage Breast Cancer Can Forgo Chemotherapy When Guided by a Diagnostic Test – The ASCO Post (free) AND Many breast cancer patients can skip chemo, big study finds – STAT (free) AND Many women with early-stage breast cancer can skip chemotherapy: study – Reuters (free) AND For Some Breast Cancer Patients, The Chemo Decision Just Got Easier – NPR (free) AND Breast cancer: Test means fewer women will need chemotherapy – BBC (free) AND Good News for Women With Breast Cancer: Many Don’t Need Chemo – The New York Times (10 articles per month are free)
ASCO 2018: Matching Treatment to Genetic Changes in the Tumor Improves Survival Across Multiple Cancer Types
6 Jun, 2018 | 21:31h | UTC
New Therapy Assessed for Children with X-Linked Hypophosphatemia
29 May, 2018 | 18:27h | UTCBurosumab Therapy in Children with X-Linked Hypophosphatemia – New England Journal of Medicine (link to abstract – $ for full-text)
Quick Take Video Summary: Burosumab for X-Linked Hypophosphatemia (free)
Perspective: Can Genetic Counselors Keep Up With 23andMe?
28 May, 2018 | 12:29h | UTCCan Genetic Counselors Keep Up With 23andMe? – The Atlantic (free)
Perspective: p53 and Me
24 May, 2018 | 22:58h | UTCp53 and Me – New England Journal of Medicine (free)
Randomized Controlled Trial: Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes
23 May, 2018 | 12:13h | UTCCanakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes – New England Journal of Medicine (link to abstract – $ for full-text)
Commentary: Autoinflammatory Syndromes Show Dramatic Response to Canakinumab – RheumNow (free)
Guideline: Clinical Management of Niemann-Pick Disease Type C
21 May, 2018 | 13:06h | UTCSource: New Clinical Practice Guidelines, May 2018 Edition – Medscape (free registration required)
Opinion: Implications of Direct-to-Consumer Genetic Testing for BRCA Mutation
21 May, 2018 | 13:05h | UTCDirect-to-Consumer Genetic Testing: The Implications of the US FDA’s First Marketing Authorization for BRCA Mutation Testing – JAMA (free for a limited period)
Perspective: Can the U.S. Get 1 Million People to Volunteer Their Genomes?
4 May, 2018 | 01:45h | UTCCan the U.S. Get 1 Million People to Volunteer Their Genomes? – Scientific American (free)
Source: Global Health NOW Newsletter
Viewpoint: In the Era of Precision Medicine and Big Data, Who Is Normal?
3 May, 2018 | 20:02h | UTCViewpoint: In the Era of Precision Medicine and Big Data, Who Is Normal? – JAMA (free for a limited period)
Study Identifies 44 Genetic Risk Factors for Depression
27 Apr, 2018 | 01:15h | UTCGenome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression – Nature Genetics (link to abstract – $ for full-text)
Commentaries: Unprecedented study identifies 44 genetic risk factors for major depression – King’s College London, via MedicalXpress (free) AND ‘Gene map for depression’ sparks hopes of new generation of treatments – The Guardian (free) AND Global study finds 44 genetic risk factors for major depression – Reuters (free)
Perspective: In the Era of Precision Medicine and Big Data, Who Is Normal?
25 Apr, 2018 | 13:44h | UTCIn the Era of Precision Medicine and Big Data, Who Is Normal? – JAMA (free for a limited period)
Research :Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia
20 Apr, 2018 | 01:57h | UTCGene Therapy in Patients with Transfusion-Dependent β-Thalassemia – New England Journal of Medicine (free)
Editorial: Gene Therapy as a Curative Option for β-Thalassemia (free)
Quick Take Video Summary: LentiGlobin Gene Therapy for β-Thalassemia (free)
Commentaries: Gene therapy could free some people from a lifetime of blood transfusions – MIT Technology Review (free) AND Gene Therapy For Inherited Blood Disorder Reduced Transfusions – NPR (free) AND Expert reaction to study on gene therapy for beta-thalassaemia – Science Media Centre (free)