Genetics
NCCN Guideline: Genetic/familial high-risk assessment: breast, ovarian, and pancreatic
14 Jan, 2021 | 01:28h | UTC
New SARS-CoV-2 variants: increased transmissibility likely to cause more deaths and possibly a new wave of the disease
10 Jan, 2021 | 20:54h | UTC- SARS-CoV-2 Variants – World Health Organization
- Why epidemiologists are so worried about the new Covid-19 variants, in 2 charts – Vox
- We lost to SARS-CoV-2 in 2020. We can defeat B-117 in 2021 – STAT
- Transmission of SARS-CoV-2 Lineage B.1.1.7 in England: insights from linking epidemiological and genetic data – Imperial College of London AND Commentary: New COVID-19 variant growing rapidly in England – Imperial College London
- Genetic Variants of SARS-CoV-2—What Do They Mean? – JAMA
- Podcast: Understanding SARS-CoV-2 Genetic Variants – JAMA
- Podcast: Understanding the New SARS-CoV-2 Mutation Found in England – JAMA
- Viral mutations may cause another ‘very, very bad’ COVID-19 wave, scientists warn – Science
- Mutant coronavirus in the United Kingdom sets off alarms, but its importance remains unclear – Science
- New variant of SARS-CoV-2 in UK causes surge of COVID-19 – The Lancet Respiratory Medicine
- Scientists are monitoring a coronavirus mutation that could affect the strength of vaccines – STAT
- Instead of debating ‘first-shot’ vs. ‘set-aside’ vaccine approaches, hospitals’ study should compare them – STAT
- The Mutated Virus Is a Ticking Time Bomb – Vox
- What We Know About The New U.K. Variant Of Coronavirus — And What We Need To Find Out – NPR
- The New Mutations – Science Translational Medicine
- New Virus Strain’s Transmissibility to Cause More Deaths: Study – Bloomberg
- U.K. variant puts spotlight on immunocompromised patients’ role in the COVID-19 pandemic – Science
- When unusually severe COVID is seen, rapid identification-and-virus-sequencing are needed world-wide – Science Speaks: Global ID News
- Covid-19: New coronavirus variant is identified in UK – The BMJ
- The looming questions scientists need to answer about the new variant of the coronavirus – STAT
- With limited surveillance of Covid-19 variant, it’s déjà vu all over again – STAT
- New coronavirus variant: What do we know? – BBC
- Covid-19 in South Africa: Scientists seek to understand new variant – BBC
- New coronavirus variant: what is the spike protein and why are mutations on it important? – The Conversation
Down syndrome tied to 10 times the risk of COVID-19 death
23 Oct, 2020 | 09:13h | UTCDown syndrome tied to 10 times the risk of COVID-19 death – CIDRAP
Original study: COVID-19 Mortality Risk in Down Syndrome: Results From a Cohort Study Of 8 Million Adults – Annals of Internal Medicine
Guidelines for care of adults with Down Syndrome
21 Oct, 2020 | 09:14h | UTCMedical Care of Adults With Down Syndrome: A Clinical Guideline – JAMA (free for a limited period)
Editorial: Guidelines for Care of Adults With Down Syndrome
WHO takes a position on genetically modified mosquitoes
21 Oct, 2020 | 09:02h | UTCWHO takes a position on genetically modified mosquitoes – World Health Organization
Position Statement: Evaluation of genetically modified mosquitoes for the control of vector-borne diseases – World Health Organization
Detection of SARS-CoV-2 with a CRISPR-based test
17 Sep, 2020 | 09:38h | UTCDetection of SARS-CoV-2 with a CRISPR-Based Test – New England Journal of Medicine
The coronavirus is mutating — does it matter?
9 Sep, 2020 | 09:35h | UTCThe coronavirus is mutating — does it matter? – Nature
[Abstract Only] Randomized trial: Once-daily, subcutaneous vosoritide therapy in children with achondroplasia
8 Sep, 2020 | 01:06h | UTC
Commentary on Twitter
NEW Research—Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial https://t.co/LbknV5D2yL pic.twitter.com/KQvRoC58pb
— The Lancet (@TheLancet) September 7, 2020
Guidelines for the diagnosis and management of hereditary hemorrhagic telangiectasia
8 Sep, 2020 | 00:59h | UTC
International consensus recommendations on the diagnostic work-up for malformations of cortical development
8 Sep, 2020 | 00:58h | UTC
‘CRISPR babies’ are still too risky, says influential panel
6 Sep, 2020 | 21:25h | UTC‘CRISPR babies’ are still too risky, says influential panel – Nature
COVID-19 and mRNA vaccines—first large test for a new approach
4 Sep, 2020 | 02:08h | UTCCOVID-19 and mRNA Vaccines—First Large Test for a New Approach – JAMA
Effects of a major deletion in the SARS-CoV-2 genome on the severity of infection and the inflammatory response
20 Aug, 2020 | 09:28h | UTC
Commentary on Twitter
NEW Research—Effects of a major deletion in the SARS-CoV-2 genome on the severity of infection and the inflammatory response: an observational cohort study
"The ∆382 variant of SARS-CoV-2 seems to be associated with a milder infection" https://t.co/D17675hk9i pic.twitter.com/LvrIQolaXD
— The Lancet (@TheLancet) August 19, 2020
Presence of genetic variants among young men with severe COVID-19
27 Jul, 2020 | 10:04h | UTCPresence of Genetic Variants Among Young Men With Severe COVID-19 – JAMA
Editorial: Molecular Underpinnings of Severe Coronavirus Disease 2019
Commentary: Genetic mutations predispose individuals to severe COVID-19 – Radboud University
AHA scientific statement: Genetic testing for inherited cardiovascular diseases
27 Jul, 2020 | 09:28h | UTCNews Release: Genetic testing for heart diseases may help patients and families identify risks – American Heart Association
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)