Mutation News and Research

RSS

Penn researchers uncover strategy to reverse effects of dyskeratosis congenita

Dyskeratosis congenita, or DC, is a rare, inherited disease for which there are limited treatment options and no cure.

18 Aug 2016

Unexplained neurodevelopmental disorder linked to harmful mutations in SON gene

A neurodevelopmental disorder for which there was no known cause has been linked to SON, a gene that is involved in essential mechanisms a cell uses to translate DNA into protein, as well as in DNA replication and cell division.

18 Aug 2016

New NIST Standard Reference Material helps ensure accurate measurements of HER2 breast cancer gene

A new measurement standard developed by the National Institute of Standards of Technology has been used successfully by the Frederick National Laboratory for Cancer Research to check the performance of next-generation DNA-sequencing technologies for evaluating gene variations associated with an increased risk of breast cancer.

18 Aug 2016

Researchers discover gene linked to age-related hearing loss

A large screening programme has identified several genes associated with age-related conditions including hearing loss, retinal degeneration and osteoarthritis.

18 Aug 2016

Scientists find way to boost efficiency with which CRISPR-Cas9 cuts and disables genes

CRISPR-Cas9 is the go-to technique for knocking out genes in human cell lines to discover what the genes do, but the efficiency with which it disables genes can vary immensely.

18 Aug 2016

New collaborative study aims to identify mutations to improve clinical management of breast cancer

Mr. Peter Goodhand, President of The Ontario Institute for Cancer Research (OICR), today announced a new collaborative research study in partnership with Thermo Fisher Scientific and Queen's University to help bring more targeted diagnosis and treatment to breast cancer patients in the future.

18 Aug 2016

Maintaining proper oxygen supply in tumors could be key factor to stop progression of cancer

The lack of oxygen in tumor cells changes the cells' gene expression, thereby contributing to the growth of cancer.

18 Aug 2016

Salk researchers identify new mechanism for Alzheimer's risk gene

For decades, scientists have known that people with two copies of a gene called apolipoprotein E4 (ApoE4) are much more likely to have Alzheimer's disease at age 65 than the rest of the population.

18 Aug 2016

TSRI scientists tackle decades-old challenge by re-creating primordial RNA world

Scientists at The Scripps Research Institute (TSRI) have taken a big step toward the laboratory re-creation of the “RNA world,” which is generally believed to have preceded modern life forms based on DNA and proteins.

17 Aug 2016

Researchers discover new biological mechanism involved in progressive hearing loss

New research with funding from UK charity Action on Hearing Loss has led to the discovery of a new biological mechanism involved in the progressive loss of hearing which could lead to new approaches to treating this common form of hearing loss.

17 Aug 2016

Research opens door to reveal how platelets sense mechanical forces to initiate blood clotting

Using a unique single-molecule force measurement tool, a research team has developed a clearer understanding of how platelets sense the mechanical forces they encounter during bleeding to initiate the cascading process that leads to blood clotting.

17 Aug 2016

Modifying huntingtin protein protects against behavioral symptoms in Huntington's model mice

There is new hope in the fight against Huntington's disease. Scientists at the Gladstone Institutes discovered that changing a specific part of the huntingtin protein prevented the loss of critical brain cells and protected against behavioral symptoms in a mouse model of the disease.

16 Aug 2016

MGH investigators discover key molecules essential for sensing proteasome dysfunction

Maintaining appropriate levels of proteins within cells largely relies on a cellular component called the proteasome, which degrades unneeded or defective proteins to recycle the components for the eventual assembly of new proteins.

16 Aug 2016

Computers could be more accurate than pathologists in assessing lung cancer tissues, study shows

Computers can be trained to be more accurate than pathologists in assessing slides of lung cancer tissues, according to a new study by researchers at the Stanford University School of Medicine.

16 Aug 2016

Mathematicians developing new statistical methods to predict bacterial epidemics

Mathematicians are now developing completely new statistical calculations on the world's fastest computers in order to be able to predict how epidemics of dangerous hospital bacteria spread.

16 Aug 2016

Study shows leptomeningeal metastases more prevalent in NSCLC patients with EGFR mutations

Leptomeningeal metastases (LM), a devastating complication and predictor of poor survival in lung cancer patients, was found to be more prevalent in non-small cell lung cancer (NSCLC) patients with epidermal growth factor receptor (EGFR) mutations.

16 Aug 2016

Study offers clues about how genetic mutations can increase risk of psychiatric disorders

Brain scans have revealed how a genetic mutation linked to major psychiatric disorders affects the structure, function and chemistry of the brain.

16 Aug 2016

Scientists find new way to use CRISPR gene editing to help fix sickle cell disease

An international team of scientists led by researchers at St. Jude Children's Research Hospital has found a way to use CRISPR gene editing to help fix sickle cell disease and beta-thalassemia in blood cells isolated from patients.

16 Aug 2016

BCL-2 inhibitor shows promise in AML patients

Patients whose acute myelogenous leukemia (AML) had relapsed or was resistant to chemotherapy and those who were deemed unable to tolerate chemotherapy experienced responses to the selective BCL-2 inhibitor venetoclax (Venclexta), with complete remissions in some, according to phase II clinical trial data.

12 Aug 2016

Long-term impacts of atomic bombs on Japanese cities not as severe as many believe, study suggests

The detonation of atomic bombs over the Japanese cities of Hiroshima and Nagasaki in August 1945 resulted in horrific casualties and devastation. The long-term effects of radiation exposure also increased cancer rates in the survivors.

12 Aug 2016

Mutation News and Research

Penn researchers uncover strategy to reverse effects of dyskeratosis congenita

Unexplained neurodevelopmental disorder linked to harmful mutations in SON gene

New NIST Standard Reference Material helps ensure accurate measurements of HER2 breast cancer gene

Researchers discover gene linked to age-related hearing loss

Scientists find way to boost efficiency with which CRISPR-Cas9 cuts and disables genes

New collaborative study aims to identify mutations to improve clinical management of breast cancer

Maintaining proper oxygen supply in tumors could be key factor to stop progression of cancer

Salk researchers identify new mechanism for Alzheimer's risk gene

TSRI scientists tackle decades-old challenge by re-creating primordial RNA world

Researchers discover new biological mechanism involved in progressive hearing loss

Research opens door to reveal how platelets sense mechanical forces to initiate blood clotting

Modifying huntingtin protein protects against behavioral symptoms in Huntington's model mice

MGH investigators discover key molecules essential for sensing proteasome dysfunction

Computers could be more accurate than pathologists in assessing lung cancer tissues, study shows

Mathematicians developing new statistical methods to predict bacterial epidemics

Study shows leptomeningeal metastases more prevalent in NSCLC patients with EGFR mutations

Study offers clues about how genetic mutations can increase risk of psychiatric disorders

Scientists find new way to use CRISPR gene editing to help fix sickle cell disease

BCL-2 inhibitor shows promise in AML patients

Long-term impacts of atomic bombs on Japanese cities not as severe as many believe, study suggests

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

Latest News