Mutation News and Research

RSS

New breakthrough may speed up research and drug trials to tackle motor neurone disease

Scientists from the University of Sheffield have successfully created zebrafish that carry the complex genetic change known to cause the most common genetic form of motor neurone disease (MND).

27 Nov 2018

Study: Measuring and monitoring tumor DNA can help reveal early melanoma growth

Researchers at the Johns Hopkins Kimmel Cancer Center say they have added to evidence that measuring and monitoring tumor DNA that naturally circulates in the blood of melanoma patients can not only reliably help reveal the early stages of cancer growth and spread but also uncover new treatment options that tumor genetic analysis alone may not.

27 Nov 2018

FDA grants accelerated approval to oncology drug for treatment of key genetic driver of cancer

The U.S. Food and Drug Administration today granted accelerated approval to Vitrakvi (larotrectinib), a treatment for adult and pediatric patients whose cancers have a specific genetic feature (biomarker).

27 Nov 2018

MERS virus that causes harmless cold in camels can be fatal for humans

What causes only a harmless cold in camels can be fatal for humans: an infection with the MERS virus. Since its discovery in 2012, the virus was detected in approximately 2,000 patients and 36 percent of them have not survived the severe lung disease known as MERS.

22 Nov 2018

New method enhances efficiency and accuracy of single cell RNA sequencing

In the era of personalized medicine, scientists are using new genetic and genomic insights to help them determine the best treatment for a given patient. In the case of cancer, the first step toward these treatments is an investigation into how tumor cells behave in an effort to figure out the best drugs to use to attack them.

22 Nov 2018

Researchers characterize new animal model that mimics aspects of AMD

Age-related macular degeneration affects roughly 200,000 individuals in the United States each year. In most, it comes on slowly, gradually blurring the central field of vision used for activities like reading and driving. While treatments exist to slow its progression, there is no cure.

22 Nov 2018

Researchers awarded $7 million funding in Pancreatic Cancer Collective’s 'New Therapies Challenge'

The Pancreatic Cancer Collective, the strategic partnership of the Lustgarten Foundation and Stand Up To Cancer, has awarded a total of $7 million in first-round "New Therapies Challenge" grants to seven teams of top cancer researchers to explore new pancreatic cancer treatments, the American Association for Cancer Research, the Scientific Partner of SU2C, announced today.

21 Nov 2018

Gut protein mutations protect against spikes in blood glucose levels

Why is it that, despite consuming the same number of calories, sodium and sugar, some people face little risk of diabetes or obesity while others are at higher risk? A new study by investigators at Brigham and Women's Hospital has uncovered mutations in a gene that appear to help drive this difference.

21 Nov 2018

Scientists identify three genes responsible for recurrent molar pregnancies

A team of scientists at the Research Institute of the McGill University Health Centre and McGill University have identified three genes responsible for recurrent molar pregnancies, a rare complication that occurs when a non-viable pregnancy with no embryo implants in the uterus.

20 Nov 2018

Potential new therapeutic approach developed for synovial sarcoma

Scientists have developed a potential new therapeutic approach for synovial sarcoma, one of the most common soft-tissue cancers in teenagers and young adults.

20 Nov 2018

Researchers shed light on molecular mechanisms of heart valvular disease

About three per cent of the world's population is affected by valvular heart diseases. It is also the most common cause of heart surgery, as no drug-based treatment is available.

20 Nov 2018

Special care should be taken with drugs that inhibit epigenetic factors, study suggests

A team headed by ICREA researchers Salvador Aznar Benitah and Fran Supek concludes that care should be taken with drugs that inhibit epigenetic factors.

20 Nov 2018

Researchers identify molecule to fight myotubular myopathy

Myotubular myopathy is a severe genetic disease that leads to muscle paralysis from birth and results in death before two years of age. Although no treatment currently exists, researchers from the University of Geneva, Switzerland, - working in collaboration with the University of Strasbourg, France, - have identified a molecule that not only greatly reduces the progression of the disease but also boosts life expectancy in animal models by a factor of seven.

19 Nov 2018

Scientists discover new inhibitor that decreases lung inflammation

Scientists from the University of Sheffield have discovered a new inhibitor which decreases lung inflammation and could hold the key to treating Acute Respiratory Distress Syndrome - a life-threatening disease which affects thousands of people in the UK.

18 Nov 2018

New strategy to hinder emergence of antimicrobial-resistant pathogens

With many disease-causing bacteria ratcheting up their shields against current drugs, new tactics are vital to protect people from treatment-resistant infections.

17 Nov 2018

Gene editing could be used to halt kidney disease in patients with Joubert syndrome

For the first time scientists have identified how to halt kidney disease in a life-limiting genetic condition, which may pave the way for personalized treatment in the future.

16 Nov 2018

Research team identifies Ashkenazi Jewish founder mutation for Leigh syndrome

Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy.

15 Nov 2018

Speed and error rate of DNA synthesis influenced by DNA structure

The speed and error rate of DNA synthesis is influenced by the three-dimensional structure of the DNA. Using "third-generation" genome-wide DNA sequencing data, a team of researchers from Penn State and the Czech Academy of Sciences showed that sequences with the potential to form unusual DNA conformations, which are frequently associated with cancer and neurological diseases, can in fact slow down or speed up the DNA synthesis process and cause more or fewer sequencing errors.

14 Nov 2018

Small populations of normal T cells could modify disease severity in patients with XLP1

Human SH2D1A mutations resulting in X-linked lymphoproliferative syndrome type 1 are associated with a unique susceptibility to the Epstein-Barr virus, which may lead to fatal infectious mononucleosis.

9 Nov 2018

New, naturally low-caffeine option for tea drinkers

Tea drinkers who seek the popular beverage's soothing flavor without its explosive caffeine jolt could soon have a new, naturally low-caffeine option.

8 Nov 2018