Mutation News and Research

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SARS-CoV-2 a "swarm" of mutant viruses

In this new study, the virus was serially passaged in independent cell types in a controlled environment. The researchers found that the virus rapidly adapts to the changing conditions in culture by selecting for pre-existing species.

12 Aug 2020

New technology could serve as more reliable model of amyotrophic lateral sclerosis

A new study published today demonstrates that a technology developed at the University of Central Florida could serve as a more reliable clinically-based model of amyotrophic lateral sclerosis (ALS) and a better screening tool for novel therapies than currently use preclinical models.

12 Aug 2020

Study may help develop treatment for age-related pulmonary fibrosis

Idiopathic pulmonary fibrosis is a potentially lethal disease for which there is currently no cure and that is associated with certain mutations or advanced age.

11 Aug 2020

AI-enhanced precision medicine approach lays groundwork for identification of autism subtype

A novel precision medicine approach enhanced by artificial intelligence (AI) has laid the groundwork for what could be the first biomedical screening and intervention tool for a subtype of autism, reports a new study from Northwestern University, Ben Gurion University, Harvard University and the Massachusetts Institute of Technology.

10 Aug 2020

DHODH inhibitor PTC299 shows potential as a COVID-19 therapeutic

As COVID-19 continues to take a heavy toll on human health and life in many parts of the world, there is still no effective antiviral drug or vaccine. This has fueled an intensive search for small molecules and proteins that can inhibit viral entry and replication.

10 Aug 2020

USA the source of most of New Zealand's coronavirus cases

New Zealand, an island country in the southwestern Pacific Ocean, is marked by its early and fierce determination to totally arrest the spread of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the viral illness that is causing the current COVID-19 pandemic.

9 Aug 2020

FDA approves first companion diagnostic that uses liquid biopsy and NGS technology

Today, the U.S. Food and Drug Administration approved the first liquid biopsy companion diagnostic that also uses next-generation sequencing (NGS) technology to identify patients with specific types of mutations of the epidermal growth factor receptor (EGFR) gene in a deadly form of metastatic non-small cell lung cancer (NSCLC).

7 Aug 2020

Research identifies a potential therapeutic target for clogged arteries

New work led by Carnegie's Meredith Wilson and Steve Farber identifies a potential therapeutic target for clogged arteries and other health risks that stem from an excess of harmful fats in the bloodstream. Their findings are published by PLOS Genetics.

7 Aug 2020

New approach improves SCA1 symptoms in animal models

Research has shown that a mutation in the ATAXIN-1 gene leads to accumulation of Ataxin-1 (ATXN1) protein in brain cells and is the root cause of a rare genetic neurodegenerative disease known as spinocerebellar ataxia type 1 (SCA1).

7 Aug 2020

Nanomedicine-based strategy enhances anti-PD1 therapy to eradicate PTEN-negative GBM

A nanomedicine-based strategy for chemo-immunotherapy (CIT) of glioblastoma (GBM), which has the worst prognosis among brain tumors, was successfully developed.

7 Aug 2020

Large-scale analysis of Alport syndrome reveals the effectiveness of existing treatments

A large-scale analysis of the clinical characteristics of Alport syndrome in Japanese patients has revealed that the effectiveness of existing treatment with ACE inhibitors and/or angiotensin receptor blockers (RAS inhibitors) varies depending on the type of mutation in the syndrome's causal gene (COL4A5).

7 Aug 2020

New test can pinpoint which people with gonorrhea can be cured with ciprofloxacin

A test designed by UCLA researchers can pinpoint which people with gonorrhea will respond successfully to the inexpensive oral antibiotic ciprofloxacin, which had previously been sidelined over concerns the bacterium that causes the infection was becoming resistant to it.

7 Aug 2020

Study finds evidence of gut dysbiosis in people with Huntington's disease

A world first clinical study of the gut microbiome in people with Huntington's disease (HD) has found that it is not just a disease of the brain, but also of the body.

6 Aug 2020

Tasmanian devil research provides new insights for treating human cancers in future

A rare, transmissible tumor has brought the iconic Tasmanian devil to the brink of extinction, but new research by scientists at Washington State University and the Fred Hutchinson Cancer Research Center in Seattle indicates hope for the animals' survival and possibly new treatment for human cancers.

6 Aug 2020

Researchers shed new light on epigenetic changes associated with ADNP syndrome

A study led by the Seaver Autism Center for Research and Treatment at Mount Sinai found that two different blood epigenetic signatures associated with ADNP syndrome (also known as Helsmoortel-Van Der Aa syndrome) have only a modest correlation with clinical manifestations of the syndrome. The study results were published online August 5 in the American Journal of Human Genetics.

6 Aug 2020

Study could refine treatment recommendations for younger adult patients with acute leukemia

The findings of a new study led by researchers at The Ohio State University Comprehensive Cancer Center - Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC - James) could refine an important set of prognostic and treatment recommendations for younger adult patients with acute myeloid leukemia (AML.

6 Aug 2020

Scientists create new mouse model of permanent neonatal diabetes

Diabetes seldom occurs in newborns--a condition known as neonatal diabetes. But when it does, it's mostly due to a mutation in a single gene such as the KCNJ11 or insulin (INS).

6 Aug 2020

Study reveals changes in transmissibility of SARS-CoV-2 due to D614G spike mutation

A recent research endeavor from the UK, currently available on the medRxiv preprint server, indicates that spike 614G variant of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) increases in frequency relative to 614D variant in a selective advantage manner – but without higher coronavirus disease (COVID-19) mortality rates.

5 Aug 2020

Existing drug used to treat alcoholism is potentially effective against COVID-19

A team of chemists from HSE University and the Zelinsky Institute of Organic Chemistry used molecular modelling to find out that two medications that have been known for a long time can be used to fight SARS-CoV-2.

5 Aug 2020

Discovery of enzyme could provide new route for treating Huntington's disease

Scientists at EPFL's Brain Mind Institute have identified an enzyme that can play a central role in developing a new route of treatment for Huntington's Disease.

5 Aug 2020

Mutation News and Research

SARS-CoV-2 a "swarm" of mutant viruses

New technology could serve as more reliable model of amyotrophic lateral sclerosis

Study may help develop treatment for age-related pulmonary fibrosis

AI-enhanced precision medicine approach lays groundwork for identification of autism subtype

DHODH inhibitor PTC299 shows potential as a COVID-19 therapeutic

USA the source of most of New Zealand's coronavirus cases

FDA approves first companion diagnostic that uses liquid biopsy and NGS technology

Research identifies a potential therapeutic target for clogged arteries

New approach improves SCA1 symptoms in animal models

Nanomedicine-based strategy enhances anti-PD1 therapy to eradicate PTEN-negative GBM

Large-scale analysis of Alport syndrome reveals the effectiveness of existing treatments

New test can pinpoint which people with gonorrhea can be cured with ciprofloxacin

Study finds evidence of gut dysbiosis in people with Huntington's disease

Tasmanian devil research provides new insights for treating human cancers in future

Researchers shed new light on epigenetic changes associated with ADNP syndrome

Study could refine treatment recommendations for younger adult patients with acute leukemia

Scientists create new mouse model of permanent neonatal diabetes

Study reveals changes in transmissibility of SARS-CoV-2 due to D614G spike mutation

Existing drug used to treat alcoholism is potentially effective against COVID-19

Discovery of enzyme could provide new route for treating Huntington's disease

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