Mutation News and Research

RSS

Yeast species thrives, despite losing DNA repair genes years ago

Researchers have discovered an ancient species of budding yeast that has lost dozens of DNA repair genes, without any adverse effects.

22 May 2019

Study discovers origin of neurofibromas that develop throughout the skin of NF1 patients

A study published today in PLOS ONE discovered the origin of severely disfiguring masses of cells, called neurofibromas, that gradually develop throughout the skin of patients afflicted with Neurofibromatosis 1.

22 May 2019

Mining 25 years of data reveals new insights into predicting the age of onset for Huntington disease

Investigators at the University of British Columbia/Centre for Molecular Medicine & Therapeutics and BC Children's Hospital have examined more than 25 years of data to reveal new insights into predicting the age of onset for Huntington disease.

18 May 2019

Study explores why people at risk for Huntington's disease choose not to undergo genetic testing

As many as 90 percent of individuals who have a parent with Huntington's disease (HD) choose not to take a gene test that reveals if they will also develop the fatal disorder -- and a new study details the reasons why.

17 May 2019

Electron microscopy project could revolutionize the search for new drugs

The search for new drugs to combat diseases more effectively could be revolutionized through a new £30 million electron microscopy project.

17 May 2019

Blood test can assess effectiveness of treatment in patients with skin cancer

Blood tests that track the amount of tumor DNA can - after only one month of drug therapy - detect how well treatment is working in patients with skin cancer, a new study finds.

16 May 2019

WVU researcher studies stubborn blood disease that strikes children

Treating a stubborn blood disease that strikes children may come down to tweaking energy production in stem cells, suggests research out of West Virginia University.

14 May 2019

Rare gene mutation may prevent heart disease, study reveals

Targeting apolipoprotein B gene has not been tested in clinical trials for cardiovascular outcomes because of risk of fatty liver disease, but naturally-occurring mutation suggests it may be effective.

13 May 2019

Scientists discover how mutations in DNA can cause neurodegenerative disease

Scientists have discovered how mutations in DNA can cause neurodegenerative disease. The discovery is an important step towards better treatment to slow the progression or delay onset in a range of incurable diseases such as Huntington's and motor neurone disease - possibly through the use, in new ways, of existing anti-inflammatory drugs.

13 May 2019

International team studies potential cancer suppression mechanisms in cetaceans

Scientists know that age and weight are risk factors in the development of cancer. That should mean that whales, which include some of the largest and longest-lived animals on Earth, have an outsized risk of developing cancer.

13 May 2019

Computational tool uses patient's genomic data to find best treatment for bladder cancer

When it comes to cancer, one-size-does-not-fit-all.One of the challenges that we have when taking care of patients with bladder cancer is that from one patient to the next, the prognosis, the stage and the response to different kinds of treatment differ.

10 May 2019

Study: Under-connectivity is the underlying cause of brain disorders

Under-connectivity, or too few connections in the brain, is the underlying cause of brain disorders like autism and schizophrenia, according to a recent study from investigators at the George Washington University Institute for Neuroscience.

10 May 2019

Penn study reveals link between mitochondrial damage and osteoporosis

Some risk factors for osteoporosis such as being older and female or having a family history of the condition cannot be avoided. But others can, like smoking cigarettes, consuming alcohol, taking certain medications, or being exposed to environmental pollutants.

9 May 2019

Researchers study the impact of and treatment for aggrecan deficiency

On Sunday, April 28, a team of researchers received the 2019 Human Growth Award at the Pediatric Endocrine Society's Annual Meeting for their abstract, entitled "Clinical Characterization and Trial of Growth Hormone in Patients with Aggrecan Deficiency: 6 Month Data," and presented this at the PES Presidential Poster Session.

8 May 2019