Genetics & Rare Diseases
IDSA/ASM Consensus Review Document: Clinical and Infection Prevention Applications of SARS-CoV-2 Genotyping.
16 Nov, 2021 | 08:50h | UTCNews Release: New review article outlines potential of SARS-CoV-2 genetic sequencing in patient care – American Society for Microbiology
Whole genome sequencing may improve the diagnosis of rare diseases and shorten diagnostic journeys for patients.
11 Nov, 2021 | 08:46h | UTCOriginal Study: 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report – New England Journal of Medicine
Related:
Review: Genome sequencing as a diagnostic test.
A prominent virologist warns new COVID-19 pill could unleash dangerous mutants. Others see little cause for alarm.
10 Nov, 2021 | 07:13h | UTCOriginal viewpoint: Supercharging New Viral Variants: The Dangers Of Molnupiravir (Part 1) – Forbes
Related:
The U.K. approves Merck’s COVID-19 antiviral pill, calling it a world first.
Merck to allow other nations to produce new COVID-19 antiviral.
Video: Merck’s Covid pill could transform treatment. Here’s how it works.
How antiviral pill Molnupiravir shot ahead in the COVID drug hunt.
What we know — and don’t know — about Merck’s new Covid-19 pill.
Merck’s Covid-19 pill is great news but may not be a game-changer.
Video | A Pill For COVID? A Doctor Explains Molnupiravir.
Review: Genome sequencing as a diagnostic test.
28 Oct, 2021 | 09:42h | UTCGenome sequencing as a diagnostic test – Canadian Medical Association Journal
Opinion | We Need to Ground Truth Assumptions about Gene Therapy – “Researchers, practitioners and patients must balance the discipline’s promise with its reality”.
27 Oct, 2021 | 01:21h | UTCWe Need to Ground Truth Assumptions about Gene Therapy – Nature
Genetic testing in the diagnosis of chronic kidney disease: recommendations for clinical practice.
7 Oct, 2021 | 10:17h | UTC
Commentary on Twitter
The diagnostic yield of genome sequencing in patients with chronic kidney disease is about 30% in children and 15-20% in adults. Should it be performed in clinical practice? @knoers and coauthors provide an informative review and recommendations. https://t.co/Pzwl0ztTLU pic.twitter.com/tWbko9mOyK
— Muin J. Khoury (@MuinJKhoury) July 23, 2021
RCT: Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.
28 Sep, 2021 | 09:05h | UTC
Commentaries on Twitter
This @JAMAPediatrics randomized clinical trial of acutely ill infants showed that access to whole genome sequencing doubled the proportion of patients with a precision diagnosis and a change of clinical management. https://t.co/yykog2UGLT pic.twitter.com/Gd7iuuUWII
— Muin J. Khoury (@MuinJKhoury) September 27, 2021
New study found two-times more infants in the ICU get a diagnosis and precision care when they get genomes. First-line genomes may reduce healthcare disparities by providing equitable access to dx https://t.co/FOO82Mds7D pic.twitter.com/BTb5AwsVHE
— JAMA Pediatrics (@JAMAPediatrics) September 27, 2021
Review | The next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology.
14 Sep, 2021 | 09:58h | UTCThe next phase of SARS-CoV-2 surveillance: real-time molecular epidemiology – Nature Medicine
Commentary on Twitter
Important paper. Monitoring virus evolution and assessing variants is critical to guide the response.
Science, collaboration, analyses, sharing, discussion, action, repeat
Proud @WHO provided technical and financial support for it. #COVID19 https://t.co/M7v8dmIy6q https://t.co/j1VOgBhw6Y
— Maria Van Kerkhove (@mvankerkhove) September 10, 2021
AHA Scientific Statement: Genetic testing for heritable cardiovascular diseases in pediatric patients.
6 Sep, 2021 | 10:33h | UTCNews release: Genetic testing in children for heart disorders should be family-centered, include counseling – American Heart Association
Commentary on Twitter
https://twitter.com/CSHeartResearch/status/1428750055863844866
Cohort study: Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers.
20 Aug, 2021 | 08:39h | UTC
Commentary on Twitter
For #BRCA1 mutation carriers, longer duration of oral contraceptive use (>10 yr) is associated with a greater reduction in #OvarianCancer risk, and the protection is long term. https://t.co/HrrutgaYKX
— Anna Chichura, MD (@AnnaChichuraMD) July 3, 2021
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
5 Aug, 2021 | 08:33h | UTCVisual abstract: Risdiplam-Treated Infants with Type 1 SMA vs. Historical Controls
Review: Tuberous sclerosis complex for the pulmonologist.
5 Aug, 2021 | 08:30h | UTCTuberous sclerosis complex for the pulmonologist – European Respiratory Review
Large genomic analysis has identified 13 new genomic regions associated with susceptibility and severity to Covid-19.
13 Jul, 2021 | 09:59h | UTCMapping the human genetic architecture of COVID-19 – Nature
Commentaries: The quest to find genes that drive severe COVID – Nature AND Gene hunters turn up new clues to help explain why Covid-19 hits some people so hard – STAT AND Large genomic analysis highlights COVID-19 risk factors – Broad Institute of MIT and Harvard AND A new study finds genetic variations in Covid patients that could point to better drug treatments. – The New York Times AND How your DNA may affect whether you get COVID-19 or become gravely ill – ScienceNews
WHO issues new recommendations on human genome editing for the advancement of public health.
13 Jul, 2021 | 09:42h | UTCSee reports:
Human genome editing: recommendations
Human genome editing: a framework for governance
Commentaries: New Global Recommendations for Human Genome Editing may Improve Use to Cure and Treat Diseases – Health Policy Watch AND WHO should lead on genome-editing policy, advisers say – Nature AND WHO Calls for Global Registry of Human Genome Editing – HealthDay AND Expert reaction to the WHO’s newly published recommendations and governance framework for human genome editing – Science Media Centre
Commentary on Twitter (thread – click for more)
Two 🆕 reports provide the first global recommendations to help establish human genome 🧬 editing as a tool for public health, with an emphasis on safety, effectiveness and ethics.
👉 https://t.co/w32QhMXSXi pic.twitter.com/Bto9SF6NzW
— World Health Organization (WHO) (@WHO) July 12, 2021
Review: Advances in the diagnosis and treatment of primary ciliary dyskinesia.
21 Jun, 2021 | 08:27h | UTCAdvances in the Diagnosis and Treatment of Primary Ciliary Dyskinesia: A Review – JAMA Otolaryngology – Head & Neck Surgery (free for a limited period)
CDC now calls coronavirus Delta variant a ‘variant of concern’.
17 Jun, 2021 | 09:53h | UTCCDC now calls coronavirus Delta variant a ‘variant of concern’ – CNN
Guidance: SARS-CoV-2 Variant Classifications and Definitions – Centers for Disease Control and Prevention
Commentary on Twitter
BREAKING—CDC now officially declares #DeltaVariant a “variant of concern”—because much more transmissible (50% faster than #B117, 2x than original strain), more severe (2.5x hospitalization risk than B117, 4x original) & 1 dose vaccine evasive.🧵 #COVID19https://t.co/jZCgfzFLla pic.twitter.com/SszvXuysze
— Eric Feigl-Ding (@DrEricDing) June 15, 2021
[Preprint] Covid-19 B.1.617.2 variant of concern (Delta) is associated with increased transmissibility compared to B.1.1.7 (Alpha) that will rapidly lead to B.1.617.2 becoming the prevailing variant in the UK.
4 Jun, 2021 | 10:36h | UTCRelated: Covid: Indian variant ‘now dominant’ in the UK – BBC
After COVID-19 successes, researchers push to develop mRNA vaccines for other infectious diseases and cancer.
2 Jun, 2021 | 08:34h | UTC
What scientists know about new, fast-spreading coronavirus variants.
26 May, 2021 | 08:45h | UTCWhat scientists know about new, fast-spreading coronavirus variants – Nature
A ‘more rapidly spreading virus’ (B.1.617 variant) is fueling India’s mega COVID-19 surge, WHO chief scientist says
11 May, 2021 | 09:16h | UTCSee also: WHO Upgrades Virus Mutation Driving India’s COVID Surge To ‘Variant of Concern’ – Global Cases Start To ‘Plateau’ – Health Policy Watch AND Why India needs oxygen more urgently than vaccines – Vox AND WHO names B1617 fourth COVID-19 variant of concern – CIDRAP
Case-control study shows an increased risk of colorectal cancer in first degree relatives of patients with colorectal polyps.
10 May, 2021 | 00:50h | UTCCommentaries: Intestinal polyps in close relatives can increase risk of colorectal cancer – Karolinska Institutet AND Relatives’ Colonoscopy Results Could Affect Your Colon Cancer Risk – HealthDay
Commentary on Twitter
After adjusting for family history of colorectal cancer, siblings and children of patients with colorectal polyps were found to be at increased risk of colorectal cancer in this study #BMJResearch https://t.co/E30VDw3PqT
— The BMJ (@bmj_latest) May 9, 2021
Study on five million Swedes finds links between blood groups and disease risks
3 May, 2021 | 05:09h | UTCNews Release: Study on five million Swedes finds links between blood groups and disease risks – Karolinska Institutet
Original Study: An agnostic study of associations between ABO and RhD blood group and phenome-wide disease risk – eLife
One million coronavirus sequences: popular genome site hits mega milestone
25 Apr, 2021 | 21:59h | UTCOne million coronavirus sequences: popular genome site hits mega milestone – Nature
How mRNA Technology Could Change the World
5 Apr, 2021 | 01:36h | UTCHow mRNA Technology Could Change the World – The Atlantic (a few articles per month are free)
RCT: Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1
5 Apr, 2021 | 01:01h | UTCLumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1 – New England Journal of Medicine (link to abstract – $ for full-text)