Mutation News and Research

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Researchers discover a new way to combat influenza virus infection

The influenza virus, like all viruses, is a hijacker. It quietly slips its way inside cells, steals the machinery inside to make more copies of itself, and then -- having multiplied -- bursts out of the cell to find others to infect.

21 Nov 2014

Researchers identify genetic signatures in melanoma tumors that predict response to immunotherapy

A team led by Ludwig and Memorial Sloan Kettering (MSK) researchers has published a landmark study on the genetic basis of response to a powerful cancer therapy known as immune checkpoint blockade.

21 Nov 2014

TSRI study examines body’s own response against chronic protein misfolding

“Protein misfolding” diseases such as cystic fibrosis and Alzheimer’s may be seriously exacerbated by the body’s own response against that misfolding, according to a new study led by scientists at The Scripps Research Institute.

20 Nov 2014

More breast cancer patients choosing to undergo mastectomy, finds Vanderbilt study

Far more breast cancer patients are choosing to undergo mastectomy, including removal of both breasts, instead of choosing breast conservation surgery even when they have early stage disease that is confined to one breast, a Vanderbilt study shows. In the past decade, there have also been marked trends toward higher proportions of women opting for breast reconstruction.

19 Nov 2014

Gene therapy transforms life for men with severe form of hemophilia B

Gene therapy developed at St. Jude Children's Research Hospital, University College London and the Royal Free Hospital has transformed life for men with a severe form of hemophilia B by providing a safe, reliable source of the blood clotting protein Factor IX that has allowed some to adopt a more active lifestyle, researchers reported.

19 Nov 2014

Strategy to stem infections in livestock, endangered species

When a viral infection spread through five genetically identical mice in a row, the virus replicated faster and became more virulent or severe. But when the infection spread one-by-one through five genetically diverse mice, the virus had trouble adapting and became less virulent.

18 Nov 2014

Scientists identify how ADAR1 gene mutation can lead to diseases

Scientists have discovered how a gene mutation can lead to diseases that occur when the immune system attacks the body by mistake.

18 Nov 2014

Study identifies new gene for progressive form of epilepsy

A study led by researchers at University of Helsinki, Finland and Universities of Melbourne and South Australia has identified a new gene for a progressive form of epilepsy. The findings of this international collaborative effort have been published today, 17 November 2014, in Nature Genetics.

18 Nov 2014

Scientists identify defects in colossal heart protein which leads to stroke, heart failure

The landmark discovery of a tiny defect in a vital heart protein has for the first time enabled heart specialists to accurately pinpoint a therapeutic target for future efforts in developing a drug-based cure for cardiovascular diseases.

18 Nov 2014

UT Southwestern researchers identify new gene mutations involved in certain kidney cancers

Using next generation gene sequencing techniques, cancer researchers at UT Southwestern Medical Center have identified more than 3,000 new mutations involved in certain kidney cancers, findings that help explain the diversity of cancer behaviors.

17 Nov 2014

Researchers use cutting-edge software to predict aggressive breast cancer tumours

Researchers at Western University are using cutting-edge genetic mutation-analysis software developed in their lab to interpret mutations in tumour genome that may provide insight into determining which breast cancer tumours are more likely spread to other parts of the body and which ones won't.

17 Nov 2014

Prostate cancer patients with hereditary BRCA mutations respond less well to conventional treatment

Prostate cancer patients carrying inherited mutations in the BRCA genes respond less well to conventional treatment, including surgery and/or radiotherapy - and they also have a lower survival rate than those who are non-carriers of these genetic mutations. Data from the study, which has been published in the journal European Urology, points to the need for new clinical trials aimed at targeting these mutations in order to tailor treatment for these patients.

17 Nov 2014

Understanding the genetic basis of glaucoma

Scientists from the University of Liverpool have sequenced the mitochondrial genome in glaucoma patients to help further understanding into the genetic basis for the disease.

16 Nov 2014

New view on how nerve cells die in Parkinson's disease

Scientists at Trinity College Dublin have made an important breakthrough in our understanding of Parkin - a protein that regulates the repair and replacement of nerve cells within the brain.

16 Nov 2014

No survival benefit with dacomitinib in pretreated patients with advanced NSCLC

The irreversible, pan-epidermal growth factor receptor tyrosine kinase inhibitor dacomitinib does not offer a survival benefit in pretreated patients with advanced or metastatic non-small-cell lung cancer, phase III trial results show.

14 Nov 2014

UNC researchers develop new approach to block KRAS oncogene

Researchers from the UNC School of Medicine and colleagues at The University of Texas MD Anderson Cancer Center have developed a new approach to block the KRAS oncogene, one of the most frequently mutated genes in human cancer.

14 Nov 2014

A single gene mutation can halve the risk of heart disease

Recent research has shown that inactivation of a single gene reduces the risk of heart attack by 50%.

14 Nov 2014

New mouse model shows how mutated gene impairs neuronal development in individuals with autism

Geneticists at Heidelberg University Hospital's Department of Molecular Human Genetics have used a new mouse model to demonstrate the way a certain genetic mutation is linked to a type of autism in humans and affects brain development and behavior.

14 Nov 2014

Genetic testing, risk factor assessment could improve prevention strategies for breast cancer

Scientists used mathematical models to show that analysing genetic data, alongside a range of other risk factors, could substantially improve the ability to flag up women at highest risk of developing breast cancer.

14 Nov 2014

Rare gene mutation linked to lower cholesterol levels, reduced risk of heart attack

Rare mutations that shut down a single gene are linked to lower cholesterol levels and a 50 percent reduction in the risk of heart attack, according to new research from Washington University School of Medicine in St. Louis, the Broad Institute at Massachusetts Institute of Technology and Harvard, and other institutions.

14 Nov 2014

Mutation News and Research

Researchers discover a new way to combat influenza virus infection

Researchers identify genetic signatures in melanoma tumors that predict response to immunotherapy

TSRI study examines body’s own response against chronic protein misfolding

More breast cancer patients choosing to undergo mastectomy, finds Vanderbilt study

Gene therapy transforms life for men with severe form of hemophilia B

Strategy to stem infections in livestock, endangered species

Scientists identify how ADAR1 gene mutation can lead to diseases

Study identifies new gene for progressive form of epilepsy

Scientists identify defects in colossal heart protein which leads to stroke, heart failure

UT Southwestern researchers identify new gene mutations involved in certain kidney cancers

Researchers use cutting-edge software to predict aggressive breast cancer tumours

Prostate cancer patients with hereditary BRCA mutations respond less well to conventional treatment

Understanding the genetic basis of glaucoma

New view on how nerve cells die in Parkinson's disease

No survival benefit with dacomitinib in pretreated patients with advanced NSCLC

UNC researchers develop new approach to block KRAS oncogene

A single gene mutation can halve the risk of heart disease

New mouse model shows how mutated gene impairs neuronal development in individuals with autism

Genetic testing, risk factor assessment could improve prevention strategies for breast cancer

Rare gene mutation linked to lower cholesterol levels, reduced risk of heart attack

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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