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Somatic gene mutations in brain cells could contribute to schizophrenia pathology

Schizophrenia is a neurodevelopmental disorder that disrupts brain activity producing hallucinations, delusions, and other cognitive disturbances. Researchers have long searched for genetic influences in the disease, but genetic mutations have been identified in only a small fraction--fewer than a quarter--of sequenced patients.

9 Mar 2021

A genetic variant of TMPRSS2 may confer protection against severe COVID-19

Among a large sample of COVID-19 patients, researchers found that a genetic variant – caused by an amino acid substitution from valine to methionine – is associated with a reduced chance of severe disease.

9 Mar 2021

Genetic variation associated with COVID-19 outcome

Host genetics play a role in disease progression and prognosis. A paper recently uploaded to the preprint server medRxiv by Dubé et al. (1st March 2021) identifies several alleles associated with the gene natriuretic peptide receptor C (NPR3) that may impact disease severity.

3 Mar 2021

Study finds novel way to diagnose Alzheimer's disease before symptoms occur

Early diagnosis of Alzheimer's disease has been shown to reduce cost and improve patient outcomes, but current diagnostic approaches can be invasive and costly.

26 Feb 2021

New biomarker could help identify people at risk of Alzheimer's disease

Early diagnosis of Alzheimer's disease has been shown to reduce cost and improve patient outcomes, but current diagnostic approaches can be invasive and costly.

25 Feb 2021

Neanderthal gene can confer protection against severe COVID-19, finds study

A new study has detailed how some of the genes in the human genome inherited from Neanderthals appear to confer a protective effect against severe COVID-19.

22 Feb 2021

Llama-derived nanobodies show neutralizing activity against SARS-CoV-2 variants of concern in vitro

A new study reports the development of nanoantibodies (nAbs) – also called or nanobodiesTM or single-domain antibodies – that effectively bind the SARS-CoV-2 spike protein from the ancestral Wuhan variant as well as the recently detected UK and South African variants.

19 Feb 2021

Premature relaxation of restrictions following SARS-CoV-2 vaccination could lead to new mutations

A new preprint research paper posted to the medRxiv* server addresses the need to assess this risk by examining whether SARS-CoV-2 transmission can interact with vaccination rates to select vaccine-resistant strains. The study aims to provide data to shape effective countermeasures against the threat of viral resistance.

14 Feb 2021

Study identifies a new factor that increases risk of Alzheimer's disease

People who have a gene variant associated with an increased risk of developing Alzheimer's disease also tend to have changes in the fluid around their brain and spinal cord that are detectable years before symptoms arise, according to new research from Duke Health.

12 Feb 2021

Molecular surveillance of SARS-CoV-2 spike protein mutations using CovRadar

In a recent bioRxiv preprint research paper, scientists from Germany discuss how they made sequence information more easily accessible for epidemiologists and virologists.

7 Feb 2021

New study reviews effect of coffee on people's sleep and wake cycles

The Institute for Scientific Information on Coffee (ISIC) published a new report today, titled 'Coffee and sleep in everyday lives', authored by Professor Renata Riha, from the Department of Sleep Medicine at the University of Edinburgh.

4 Feb 2021

Researchers release first Japanese reference genome

The Japanese now have their own reference genome thanks to researchers at Tohoku University who completed and released the first Japanese reference genome (JG1).

29 Jan 2021

Innovative breakthrough promises to diagnose DNA rearrangement mutations

Doctors are increasingly using genetic signatures to diagnose diseases and determine the best course of care, but using DNA sequencing and other techniques to detect genomic rearrangements remains costly or limited in capabilities.

28 Jan 2021

Consuming caffeinated coffee can temporarily mitigate repercussions of reduced sleep

A new study exploring the impact of repeated sleep loss during a simulated working week has found that consuming caffeinated coffee during the day helps to minimize reductions in attention and cognitive function, compared to decaffeinated coffee.

22 Jan 2021

Mitochondrial mutation linked to elevated diabetes risk in Japanese men

A new study of Type 2 diabetes in Japanese populations has uncovered a previously uncharacterized genetic variant that puts male carriers at greater risk for the disease, as well as the mechanism by which it does so.

21 Jan 2021

Gene editing shows potential to correct mutations causing inherited retinal degeneration

Gene editing therapies, including CRISPR-Cas systems, offer the potential to correct mutations causing inherited retinal degenerations, a leading cause of blindness.

20 Jan 2021

SARS-CoV-2 mutations may evade T cell immunity

A potentially disturbing new study suggests that SARS-CoV-2 may be undergoing strategic mutations that affect the host immune capacity to recognize and combat the pathogen via T effector cells.

23 Dec 2020

Neanderthal gene variant increases risk of severe COVID-19

Researchers in Germany have conducted a study showing that between 2 and 8% of people in Eurasia carry a genetic variant inherited from Neanderthals that significantly increases the risk of becoming critically ill with coronavirus disease 2019 (COVID-19).

15 Dec 2020

Emergence of resistant SARS-CoV-2 variant in immunocompromised patient following therapeutic antibody use

The focus is increasingly moving towards vaccine roll-out as the world faces the real possibility of the second year of social and economic restrictions.

14 Dec 2020

Epitope “megapools” could help determine role T cell immunity plays in COVID-19

Researchers in the United States and Australia have conducted a comprehensive analysis of the epitope recognition patterns associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in humans.

14 Dec 2020