Mutation News and Research

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Environmental exposures and behaviors contribute to the majority of cancers, study shows

Researchers have found that extrinsic factors such as environmental exposures and behaviors contribute heavily to the development of the vast majority of cancers.

17 Dec 2015

Mitochondrial variation and viable pregnancy: an interview with Dr Elpida Fragouli

Embryos require adequate amounts of energy so that they can successfully progress through each of their cell divisions.

16 Dec 2015

Researchers find new way to prevent or reduce pathologies caused by malformed proteins

Improperly formed proteins can cause a host of serious illnesses, from muscular dystrophy to cystic fibrosis. A question of enormous import in research, beyond the challenge of determining how malformed proteins contribute to specific disease processes, is figuring out ways to prevent or reduce the pathologies they cause.

16 Dec 2015

Many gene variants affect person's response to medication

In recent decades much hope was based on the development of personalised drug treatments, in which genetic tests determine the choice and optimal dose of medication for each individual patient. However, the real breakthrough is still to be seen, and now researchers at Karolinska Institutet show in two separate scientific papers that many more gene variants affect how a person responds to medication than previously thought - and thus that today's analytical tools are too coarse.

16 Dec 2015

New study finds a reason for ethnic disparity in CF diagnoses

Cystic fibrosis (CF) occurs less frequently in nonwhites than in whites, and nonwhites tend to be diagnosed at a later age. This late diagnosis often comes only once they have become symptomatic, rather than through newborn screening programs or molecular diagnostic testing.

16 Dec 2015

Array BioPharma reports top-line results from binimetinib Phase 3 trial in patients with NRAS-mutant melanoma

Array BioPharma today reported top-line results from the ongoing Phase 3 clinical trial of binimetinib in patients with advanced NRAS-mutant melanoma, known as the NEMO trial. The study met its primary endpoint of improving progression-free survival (PFS) compared with dacarbazine treatment.

16 Dec 2015

TSRI scientists track how HIV-fighting antibodies develop over time

In a new study, a team led by scientists at The Scripps Research Institute tracked how a family of these HIV-fighting antibodies develops over time. The research shows how a future vaccine might trigger the immune system to produce these antibodies more effectively.

16 Dec 2015

Discovery could pave way for targeted therapies to treat penile cancer

Researchers have identified potential genetic alterations in penile cancer that could pave the way for targeted treatments.

15 Dec 2015

VCU Massey Cancer Center scientists reveal signaling process that leads to excessive growth of cancer

The gene p53 has been described as the "guardian of the genome" due to its prominent role in preventing genetic mutations. More than half of all cancers are thought to originate from p53 mutations or loss of function, and now a recent study by VCU Massey Cancer Center scientist Richard Moran, Ph.D., explains why.

15 Dec 2015

Liver protein aids in accelerating growth of insulin-producing pancreatic 'beta' cells

More than a quarter of the 30 million people with diabetes in the United States depend on daily injections of insulin to maintain their blood glucose levels in a healthy range. Scientists are investigating many techniques to help treat or potentially even cure many of these patients by increasing the body's own insulin-producing pancreatic "beta" cells.

15 Dec 2015

Experimental drugs that modify cell metabolism also halt tumor growth

Experimental drugs that alter cell metabolism also halted tumor growth and extended survival in mice with cancers linked to changes in the same gene, according to a new study led by researchers at NYU Langone Medical Center, its Laura and Isaac Perlmutter Cancer Center and Massachusetts General Hospital.

15 Dec 2015

New study describes a way to identify complex type of mutation in cancer genomes

New research shows that current approaches to genome analysis systematically miss detecting a certain type of complex mutation in cancer patients' tumors. Further, a significant percentage of these complex mutations are found in well-known cancer genes that could be targeted by existing drugs, potentially expanding the number of cancer patients who may benefit.

15 Dec 2015

Genes vital for age-related cognitive declines in memory identified in adult worm neurons

Researchers from Princeton University have identified genes important for age-related cognitive declines in memory in adult worm neurons, which had not been studied previously. The research, published in the journal Nature, could eventually point the way toward therapies to extend life and enhance health in aging human populations.

15 Dec 2015

Researchers trace origins of early abnormal brain overgrowth in ASD

Further underscoring the prenatal origins of Autism Spectrum Disorder (ASD), researchers at University of California, San Diego School of Medicine describe for the first time how abnormal gene activity in cell cycle networks that are known to control brain cell production may underlie abnormal early brain growth in the disorder.

14 Dec 2015

ICGC article lays foundation for the coming era of cancer genomic research

An eye-opening article from the International Cancer Genome Consortium was published today in the prestigious journal Nature Communications. It lays a foundation for the coming era of research in cancer genomics.

13 Dec 2015

Whitehead researchers create 3D map to predict how genes are regulated in normal cells

Whitehead Institute researchers have created a map of the DNA loops that comprise the three dimensional (3D) structure of the human genome and regulate gene expression in human embryonic stem (ES) cells and adult cells. The location of genes and regulatory elements within this chromosomal framework could help scientists better navigate their genomic research, establishing relationships between mutations and disease development.

13 Dec 2015

CRISPR/Cas9 turns hPSCs into cell-based lab model system for polycystic kidney disease

CRISPR/Cas9 is hot. News of the revolutionary gene editing technique that is already shaking up bioscience has finally reached the news media and the public. Now comes a first rate example of how CRISPR is changing the pace of biomedical research by linking up with another cutting edge technology -- human pluripotent stem cells (hPSCs).

12 Dec 2015

New MSK-led studies on liquid biopsy presented at San Antonio Breast Cancer Symposium

Information gleaned from a liquid biopsy may help predict how individual women with advanced breast cancer will respond to certain therapies as well as reveal genetic mutations that can impact prognosis, according to two new studies led by Memorial Sloan Kettering Cancer Center Physician-in-Chief José Baselga and physician-scientist Sarat Chandarlapaty.

12 Dec 2015

ASU-led researchers add new worldwide resource to explore genes' deep and hidden messages

After a decade-long $3 billion international effort, scientists heralded the 2001 completion of the human genome as a moon landing achievement for biology and the key to finally solving intractable diseases like cancer.

12 Dec 2015

Researchers use endocytic pathways to sort out NSCLC lines into two distinct clusters

In the Age of Personalized Medicine, we've learned that one size doesn't fit all, least of all in cancer. Cancer is a disease of your cells, and sorting out your cancer from all others is a daunting challenge but one that cancer cell biologists are furiously pursuing. They are examining every aspect of cell function and cell structure, looking for clusters of phenotypes that could label a patient's cancer so precisely that it could be linked to therapies proven effective against just that type.

12 Dec 2015

Mutation News and Research

Environmental exposures and behaviors contribute to the majority of cancers, study shows

Mitochondrial variation and viable pregnancy: an interview with Dr Elpida Fragouli

Researchers find new way to prevent or reduce pathologies caused by malformed proteins

Many gene variants affect person's response to medication

New study finds a reason for ethnic disparity in CF diagnoses

Array BioPharma reports top-line results from binimetinib Phase 3 trial in patients with NRAS-mutant melanoma

TSRI scientists track how HIV-fighting antibodies develop over time

Discovery could pave way for targeted therapies to treat penile cancer

VCU Massey Cancer Center scientists reveal signaling process that leads to excessive growth of cancer

Liver protein aids in accelerating growth of insulin-producing pancreatic 'beta' cells

Experimental drugs that modify cell metabolism also halt tumor growth

New study describes a way to identify complex type of mutation in cancer genomes

Genes vital for age-related cognitive declines in memory identified in adult worm neurons

Researchers trace origins of early abnormal brain overgrowth in ASD

ICGC article lays foundation for the coming era of cancer genomic research

Whitehead researchers create 3D map to predict how genes are regulated in normal cells

CRISPR/Cas9 turns hPSCs into cell-based lab model system for polycystic kidney disease

New MSK-led studies on liquid biopsy presented at San Antonio Breast Cancer Symposium

ASU-led researchers add new worldwide resource to explore genes' deep and hidden messages

Researchers use endocytic pathways to sort out NSCLC lines into two distinct clusters

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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