Mutation News and Research

RSS

Study may change global guidelines for managing children with uncomplicated fever

Children in sub-Saharan Africa with uncomplicated fever may be safely managed with conditional, rather than universal, 3-day follow-up with a community health worker, according to a randomized trial by researchers at Karolinska Institutet published in PLOS Medicine.

18 Apr 2018

Researchers use 'top-down proteomics' strategy to get new insights into cancer

When a RAS gene operates normally, it acts as an on/off switch for cell signaling to control cell proliferation. But when the gene mutates, the switch jams into the "on" position, allowing cells to proliferate uncontrollably.

18 Apr 2018

Scientists provide insight into how gene associated with autoimmunity contributes to disease

Researchers have provided new insight into how a gene associated with autoimmunity contributes to disease in humans.

17 Apr 2018

Large ALS-causing protein aggregates protect rather than harm neurons

Scientists at the UNC School of Medicine have made a significant advance in the understanding of the complex and fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease.

17 Apr 2018

Engineered immune cells clear deadly pediatric brain tumor in mice

Engineered human immune cells can vanquish a deadly pediatric brain tumor in a mouse model, a study from the Stanford University School of Medicine has demonstrated.

16 Apr 2018

Versatile mouse model opens doors to new targeted cancer therapies

Researchers from the Seve Ballesteros Foundation-CNIO Brain Tumour Group at the Spanish National Cancer Research Centre have developed an extremely powerful and versatile mouse model that will improve cancer research and accelerate pre-clinical testing of novel targeted therapies. Their work appears in Nature Communications.

13 Apr 2018

Overestimation of Ebola virus mutation rates

Scientific evidence at the start of the last major Ebola epidemic in West Africa that suggested the virus would change exceptionally rapidly was probably due to methodological biases.

12 Apr 2018

Research team identifies new mutation behind heart failure in South Asians

An international research team involving Karolinska Institutet has identified a new mutation in South Asians that, in combination with a known mutation in the same gene, increases the risk of cardiomyopathy and heart failure.

12 Apr 2018

ESMO: New system to rank relevance of treatable cancer genetic mutations needed

ESMO, the leading professional organization for medical oncology, welcomes the latest reports from The Cancer Genome Atla as a major resource for researchers across the world and calls for increased across-the-board commitment to translate these efforts into medical advances for the benefit of cancer patients.

11 Apr 2018

Researchers develop new technique to study self-assembling virus shell

Northwestern Engineering researchers have developed a new way to manipulate a virus shell that self-assembles from proteins and holds promise as a carrier for disease detection, drug delivery, and vaccinations.

11 Apr 2018

NIH study uncovers genetic basis of 'dripping candle wax' bone disease

Researchers at the National Institutes of Health worked with 15 patients from around the world to uncover a genetic basis of "dripping candle wax" bone disease.

11 Apr 2018

Transcription factor Sp7 found to play key role in tooth development

Amjad Javed, Ph.D., and University of Alabama at Birmingham colleagues have found a key role in tooth development for the transcription factor Specificity protein 7, or Sp7.

11 Apr 2018

Newly discovered predictive biomarkers could help assess level of glioma recurrence risk

Researchers have identified specific predictive biomarkers that could help assess the level of risk for recurrence in patients with malignant glioma. The study, led by Henry Ford Health System's Department of Neurosurgery and Department of Public Health Sciences, was published today in Cell Reports.

10 Apr 2018

New technique makes it possible to trace lineage of each cell

Every biology textbook states that cells are life's building blocks. But researchers are only now beginning to understand their diversity. Technologies such as RNA sequencing are revealing which genes are expressed in each individual cell.

9 Apr 2018

Families support groundbreaking research on Charcot-Marie-Tooth disease

Lorena Martin's twin daughters kick butt on the soccer field. Martin is proud of how they hold their own, despite having a rare genetic disease called Charcot-Marie-Tooth (CMT), which has damaged their peripheral nervous system. The girls lack proper control of their hands and feet because their nerves can't send signals properly, so they play using power wheelchairs.

9 Apr 2018

Scientists identify key genetic events responsible for initiating childhood leukemia

The key genetic events responsible for initiating the early stages of a type of childhood leukemia have been identified by scientists at The Institute of Cancer Research, London. Insights into the ‘founder’ genetic mutation for this type of leukemia, present in all the cancer cells, could be used in the development of new targeted drugs.

6 Apr 2018

Novel technology gives rise to mouse pancreatic tumors that resemble human cancer

Novel technology developed at UT Health San Antonio gives rise to mouse pancreatic tumors that have the same traits as human pancreatic cancer. A U.S. patent is pending on the invention.

6 Apr 2018

Study provides systematic view of gene enhancer activity in diverse tumors

At the heart of any cancer diagnosis or treatment are cells. If one thinks of the cell components controlling gene activation as a Russian nesting-doll of gene regulatory layers, within those increasingly smaller tiers are short pieces of non-coding DNA called enhancers.

5 Apr 2018

New method simplifies genetic modification of T-cells in mice

A new method enables genes in living T-cells in mice to be modified quickly and efficiently. It makes use of plasmids, a tried-and-tested method of genetic engineering.

5 Apr 2018

Insights into blood cell formation may help break new ground in treatment of anemia

Every day, stem cells in our bone marrow produce billions of new red blood cells. Any disruption in this process can result in serious disease. Researchers from Charité - Universitätsmedizin Berlin and Harvard Medical School have succeeded in furthering our understanding of how blood cells are formed.

4 Apr 2018