Mutation News and Research

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The circadian clock is key to reducing radiation‐induced cardiotoxicity

Treatment for breast cancer commonly includes radiation therapy, which offers good chances of success but comes with a serious long-term side effect: toxicity due to radiation that reaches the heart, causing DNA damage in healthy heart cells. Over time, this can lead to heart disease and eventually heart failure.

13 Jan 2020

Researchers provide first robust cell culture model for hepatitis E virus

Even though hepatitis E causes over three million infections and about 70,000 deaths each year, the virus has been little studied as yet.

13 Jan 2020

Boston researchers develop novel approach to generate intestinal organoids in vitro

Boston researchers have developed a new way to generate groups of intestinal cells that can be used, among others, to make disease models in the lab to test treatments for diseases affecting the gastrointestinal system.

11 Jan 2020

A class of antibiotics could be potential treatment for frontotemporal dementia

Researchers at the University of Kentucky's College of Medicine have found that a class of antibiotics called aminoglycosides could be a promising treatment for frontotemporal dementia.

10 Jan 2020

Siah2 Gene Control could Help Treat Melanomas More Effectively

To develop improved cancer immunotherapies, it is essential to understand how cancers shut down the natural immune response to foreign antigens. This current study demonstrates how mice lacking the Siah2 gene, fail to develop BRAF-mutation carrying melanoma from the corresponding cells, completely rejecting them. This could help in boosting the anticancer effect of existing specific immune checkpoint inhibitors, such as anti-PD-1 drugs.

10 Jan 2020

Missing a key protein in the brain can cause autism-like behaviors

Scientists at Rutgers University-Newark have discovered that when a key protein needed to generate new brain cells during prenatal and early childhood development is missing, part of the brain goes haywire - causing an imbalance in its circuitry that can lead to long-term cognitive and movement behaviors characteristic of autism spectrum disorder.

9 Jan 2020

Common genetic defect in prostate cancer associated with worse prognosis

Like security screening to make sure nothing harmful makes its way into a crowded area, cells in the human body use checkpoints to control their growth and prevent harmful mutations from making their way into new cell populations and causing trouble.

9 Jan 2020

Scientists identify 'modifier gene' that determines severity of inherited kidney disease

Scientists have developed a new way to understand complex genetic diseases and have identified a gene that modifies the severity of inherited kidney disease, paving the way for personalised treatments.

9 Jan 2020

Nano-sized copper compounds together with immunotherapy can kill cancer cells

An interdisciplinary team of scientists from KU Leuven, the University of Bremen, the Leibniz Institute of Materials Engineering, and the University of Ioannina has succeeded in killing tumour cells in mice using nano-sized copper compounds together with immunotherapy. After the therapy, the cancer did not return.

9 Jan 2020

Researchers identify new mechanism associated with p53 mutation

More than half of cancer cases worldwide are associated with genetic mutations in p53, the protein responsible for protecting DNA from changes that can lead to cancer.

9 Jan 2020

FSU discovery could open the door to new treatment options for HIV, hepatitis B

A discovery by Florida State University College of Medicine researchers is expected to open the door for new and more potent treatment options for many of the more than 36 million people worldwide infected with the HIV virus and for others chronically ill with hepatitis B.

8 Jan 2020

Dog study suggests that AAV in gene therapy could induce cancer

A gene therapy study in dogs has stirred up old fears that by using AAV in gene therapy, it may be increasing cancer chances.

8 Jan 2020

Some genetic sequencing misses out large parts of the genome

A study of patient samples has found that more than a quarter of genes are missed in genetic sequencing procedures.

7 Jan 2020

Whole exome sequencing routinely fails to adequately analyze large segments of DNA

Children who undergo expansive genetic sequencing may not be getting the thorough DNA analysis their parents were expecting, say experts at UT Southwestern Medical Center.

6 Jan 2020

A new deep learning approach to predict disease-associated mutations

During the past years, artificial intelligence (AI) -- the capability of a machine to mimic human behavior -- has become a key player in high-techs like drug development projects.

28 Dec 2019

Lab-grown brain organoids may hold the answers to personalized treatments for glioblastomas

Lab-grown brain organoids developed from a patient's own glioblastoma, the most aggressive and common form of brain cancer, may hold the answers on how to best treat it.

26 Dec 2019

Ancestral-sequence reconstruction of FMO genes unveils structure of important enzyme

To disarm toxic substances, many organisms - including humans - possess enzymes called flavin-containing monooxygenases. Despite their importance, the structure of the enzymes has not been resolved, as the protein is too unstable to study in detail.

23 Dec 2019

Research findings may one day help keep ALS at bay

A new study published in the journal Nature Medicine on December 23, 2019, shows how to silence a defective gene responsible for the degeneration of the motor neurons in Lou Gehrig’s disease, or amyotrophic lateral sclerosis (ALS), in adult mice. This could help prevent disease progression if the condition is already symptomatic, and even suppress the illness if it has not yet started.

23 Dec 2019

Autism risk in children could be predicted by mutations in paternal sperm

Researchers from the University of California, San Diego, have found that mutations present in the sperms of the father could be predictors of autism in the offspring, in a landmark study. These mutations, if quantified could help ascertain the risk say the researchers. The new study appears this week in the latest issue of the journal Nature Medicine.

23 Dec 2019

New, faster and cheaper method to uncover genetic variants in single cells

Researchers led by the European Molecular Biology Laboratory in Heidelberg and the Center for Bioinformatics at Saarland University in Saarbrücken, Germany, have developed a cheaper and faster method to check for genetic differences in individual cells, which outperforms existing techniques with respect to the information received.

23 Dec 2019