Mutation News and Research

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Deletions in the antigenic regions in SARS-CoV-2 increase transmission and immune evasion ability

A recent study published in the journal Scientific Reports examined the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) whole genome data to determine the deletion mutations around the spike protein region associated with increased transmission of the virus and identified an increase in the deletion-prone spike protein regions indicating an evolution strategy for immune escape.

9 Jan 2023

New research on nirmatrelvir resistance in SARS-CoV-2 using powerful replicon cell culture systems

In a recent study posted to the bioRxiv* preprint server, researchers at Emory University used severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) Washington (WA.1) and Omicron (BA.1) strains to test for mutations that could result in resistance to the antiviral drug nirmatrelvir.

8 Jan 2023

New research on DNA-repair enzyme could help enhance cancer drug development

Researchers from Rice University and St. Jude Children's Research Hospital in Memphis, Tennessee, took a close look at one of ways cells repair broken strands of DNA and discovered details that could help make a particular enzyme a promising target for precision cancer therapy.

6 Jan 2023

Vitamin D can help the immune system fight tuberculosis, study says

Most people probably associate tuberculosis with a leaky loft in 20th-century Paris. But as a matter of fact, tuberculosis is not ancient history.

6 Jan 2023

Pan-vaccine antigen strategy confers protection against cross-clade SARS-CoV-2 variants, including vaccine-resistant Omicron variants

Researchers developed a novel pan-vaccine antigen (Span)-based subunit vaccine against COVID-19.

6 Jan 2023

Study shows XBB.1.5 exhibits a substantially higher hACE2-binding affinity compared to BQ.1.1 and XBB/XBB.1

Researchers investigated the reasons for the rapid advent of SARS-CoV-2 XBB.1.5, a sublineage of the Omicron recombinant mutant XBB in the USA.

6 Jan 2023

Seroprevalence study demonstrates vaccination could boost impaired humoral immunity against Omicron BQ.1.1 subvariant

Researchers conducted a multicenter, cross-sectional seroprevalence study in emergency departments of five hospitals in North Rhine-Westphalia, Germany, between August and September 2022. They assessed point seroprevalence and neutralization activity against Wu01, BA.4/5, and BQ.1.1.

5 Jan 2023

Recently discovered protein holds potential for the development of new tests for infectious diseases

In a first for the genetic toolset known as CRISPR, a recently discovered protein has been found to act as a kind of multipurpose self-destruct system for bacteria, capable of degrading single-stranded RNA, single-stranded DNA and double-stranded DNA.

4 Jan 2023

Incurable liver disease could be reversed with a single drug

Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug.

4 Jan 2023

Deep learning tool identifies mosaic mutations that cause disease

Genetic mutations cause hundreds of unsolved and untreatable disorders. Among them, DNA mutations in a small percentage of cells, called mosaic mutations, are extremely difficult to detect because they exist in a tiny percentage of the cells.

2 Jan 2023

BA.4/BA.5 mutations reduced responsiveness of epitope-specific T cells with original mRNA vaccine

A new study in the journal Viruses examines the phenomenon of breakthrough infections due to the evasion of T-cell immunity by the Omicron BA.4/BA.5 subvariants, showing this to be due to spike gene mutations.

2 Jan 2023

Underlying genetic cause for MIS-C complications after COVID-19 identified

A recent Science journal study determined the underlying cause of MIS-C related to SARS-CoV-2 in some children. It hypothesized that monogenic inborn errors of immunity (IEI) is the primary reason for this condition. Identifying these inborn errors is expected to help elucidate the disease's cellular, molecular, and immunological basis.

2 Jan 2023

New insights on the circadian clock of Drosophila melanogaster

The higher the temperatures, the faster physiological processes are. But there is an exception: the so-called circadian clock, which regulates the sleep-wake cycle in organisms.

30 Dec 2022

AI can improve the effectiveness of colonoscopy in the presence of Lynch syndrome

First study of AI-assisted colonoscopy for colorectal cancer surveillance in patients with genetic predisposition - People with Lynch syndrome have a higher hereditary risk of colon cancer.

28 Dec 2022

Cellular models based on reprogrammed human cells could boost development of efficient therapies

Studies on diseases that affect the human brain are usually based on animal models which cannot reproduce the complexity of human neuropathies.

22 Dec 2022

Researchers identify a new pathogenic mechanism for diabetes onset in MODY3

In order to treat patients with diabetes in the best possible way it is necessary to understand the disease mechanism. MODY type 3 (MODY3) is a monogenic hereditary form of diabetes, that is caused by a genetic defect in the HNF1A gene.

22 Dec 2022

Cystic fibrosis drug shows promise to treat pneumonia

Pathogens such as SARS-CoV-2 and pneumococcus can cause severe pneumonia. If the airways then fill with fluid, the patient risks developing acute respiratory distress syndrome.

22 Dec 2022

Sotorasib achieves meaningful anticancer activity in patients with KRAS G12C-mutated metastatic pancreatic cancer

In the Phase I/II CodeBreaK 100 trial, the KRAS G12C inhibitor sotorasib achieved meaningful anticancer activity with an acceptable safety profile in heavily pretreated patients with KRAS G12C-mutated metastatic pancreatic cancer, according to researchers at The University of Texas MD Anderson Cancer Center.

21 Dec 2022

Mutations responsible for common inherited heart condition corrected using CRISPR-Cas9 therapy

Using the CRISPR-Cas9 gene editing system, UT Southwestern researchers corrected mutations responsible for a common inherited heart condition called dilated cardiomyopathy (DCM) in human cells and a mouse model of the disease.

21 Dec 2022

Research links mutation that causes Huntington's disease to developmental deficits in the brain's oligodendrocyte cells

A research team led by the University of California, Irvine has linked the mutation that causes Huntington's disease to developmental deficits in the brain's oligodendrocyte cells that are caused by changes in metabolism.

21 Dec 2022

Mutation News and Research

Deletions in the antigenic regions in SARS-CoV-2 increase transmission and immune evasion ability

New research on nirmatrelvir resistance in SARS-CoV-2 using powerful replicon cell culture systems

New research on DNA-repair enzyme could help enhance cancer drug development

Vitamin D can help the immune system fight tuberculosis, study says

Pan-vaccine antigen strategy confers protection against cross-clade SARS-CoV-2 variants, including vaccine-resistant Omicron variants

Study shows XBB.1.5 exhibits a substantially higher hACE2-binding affinity compared to BQ.1.1 and XBB/XBB.1

Seroprevalence study demonstrates vaccination could boost impaired humoral immunity against Omicron BQ.1.1 subvariant

Recently discovered protein holds potential for the development of new tests for infectious diseases

Incurable liver disease could be reversed with a single drug

Deep learning tool identifies mosaic mutations that cause disease

BA.4/BA.5 mutations reduced responsiveness of epitope-specific T cells with original mRNA vaccine

Underlying genetic cause for MIS-C complications after COVID-19 identified

New insights on the circadian clock of Drosophila melanogaster

AI can improve the effectiveness of colonoscopy in the presence of Lynch syndrome

Cellular models based on reprogrammed human cells could boost development of efficient therapies

Researchers identify a new pathogenic mechanism for diabetes onset in MODY3

Cystic fibrosis drug shows promise to treat pneumonia

Sotorasib achieves meaningful anticancer activity in patients with KRAS G12C-mutated metastatic pancreatic cancer

Mutations responsible for common inherited heart condition corrected using CRISPR-Cas9 therapy

Research links mutation that causes Huntington's disease to developmental deficits in the brain's oligodendrocyte cells

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Bringing real-time analytics to downstream bioprocess monitoring

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