Mutation News and Research

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Study findings could lead to new ways to tailor therapies for cancer

By studying the yeast used in beer- and bread-making, researchers at the University of Pittsburgh School of Medicine have uncovered the mechanism by which ancient proteins repair DNA damage and how their dysfunction could lead to the development of tumors.

28 Jul 2015

LMU researchers reveal role of mutations in development of Ewing's sarcoma

Researchers from Ludwig-Maximilians-Universitaet in Munich have elucidated at the molecular level how an otherwise innocuous inherited mutation that is quite common in European populations interacts with a spontaneous somatic mutation to promote the development of Ewing's sarcoma.

28 Jul 2015

Yale researchers confirm NF1 gene as major player in development of skin cancer

A multidisciplinary team at Yale, led by Yale Cancer Center members, has defined a subgroup of genetic mutations that are present in a significant number of melanoma skin cancer cases. Their findings shed light on an important mutation in this deadly disease, and may lead to more targeted anti-cancer therapies.

28 Jul 2015

Protein imbalances within cells can cause ovarian cancer

Cancer can be caused solely by protein imbalances within cells, a study of ovarian cancer has found. The discovery is a major breakthrough because, until now, genetic aberrations have been seen as the main cause of almost all cancer.

28 Jul 2015

Low-dose lithium lowers involuntary motor movements in mouse model of Parkinson's disease

Low-dose lithium reduced involuntary motor movements - the troubling side effect of the medication most commonly used to treat Parkinson's disease (PD) - in a mouse model of the condition that is diagnosed in about 60,000 Americans each year. The third in a series of studies from the Andersen lab involving PD and low-dose lithium, the results add to mounting evidence that low-doses of the psychotropic drug could benefit patients suffering from the incurable, degenerative condition.

28 Jul 2015

Twenty Radboud researchers receive Veni grant as part of Innovational Research Incentives Scheme

Twenty young and promising researchers from Nijmegen - eleven from Radboud University and nine from Radboudumc - are each to receive up to 250,000. NWO (The Netherlands Organisation for Scientific Research) is awarding the Veni grant as part of the Innovational Research Incentives Scheme.

25 Jul 2015

Simple and accurate detection system can redefine medical diagnostics field

In biology and medicine, we often need to detect biological molecules. For example, in cancer diagnostics, doctors need quick and reliable ways of knowing if tumor cells are present in the patient's body.

25 Jul 2015

Researchers find way to reverse clotting factor deficiency that triggers hemophilia A

Sufferers of hemophilia live in a perpetual state of stress and anxiety: their joints wear down prematurely and they have bleeding episodes that feel like they will never end. Their bodies lack the ability to make the clotting factor responsible for the coagulation of blood so any cut or bruise can turn into an emergency without immediate treatment.

24 Jul 2015

Scientists discover genetic markers for mosquito resistance to insecticides

Controlling mosquitoes that carry human diseases is a global health challenge as their ability to resist insecticides now threatens efforts to prevent epidemics. Scientists from the CNRS, IRD, Université Claude Bernard Lyon 1, Université Joseph Fourier in Grenoble and Institut Pasteur in French Guiana have identified new genetic markers for mosquito resistance to insecticides, which could improve its detection in the field.

24 Jul 2015

New interactive tool helps researchers explore genetic underpinnings of cancer

Brown University computer scientists have developed a new interactive tool to help researchers and clinicians explore the genetic underpinnings of cancer.

23 Jul 2015

Deep Genomics set to bring the power of deep learning technologies to genomics

Evolution has altered the human genome over hundreds of thousands of years -- and now humans can do it in a matter of months.

23 Jul 2015

Researchers use gene-editing technique involving low-dose irradiation to repair human stem cells

For the first time, researchers have employed a gene-editing technique involving low-dose irradiation to repair patient cells, according to a study published in the journal Stem Cells Translational Medicine. This method, developed by researchers in the Cedars-Sinai Board of Governors Regenerative Medicine Institute, is 10 times more effective than techniques currently in use.

23 Jul 2015

Researchers develop diagnostic test to detect enterovirus D68

Researchers at Washington University School of Medicine in St. Louis have developed a diagnostic test to quickly detect enterovirus D68 (EV-D68), a respiratory virus that caused unusually severe illness in children last year. The outbreak caused infections at an unprecedented rate, with over 1,000 confirmed cases and 14 reported deaths nationwide, according to the Centers for Disease Control and Prevention.

23 Jul 2015

Infants born with mutation in PLVAP gene develop severe protein losing enteropathy

Newborn children born with a mutation in the Plasmalemma Vesicle Associated Protein (PLVAP) gene develop severe protein losing enteropathy, according to a case study1 published in Cellular and Molecular Gastroenterology and Hepatology, the basic science journal of the American Gastroenterological Association.

23 Jul 2015

Study identifies new culprit in Alzheimer's disease development

A recent study conducted at Nathan S. Kline Institute for Psychiatric Research and NYU Langone Medical Center implicates a new culprit in Alzheimer's disease development. The research reveals that ßCTF -- the precursor of the amyloid beta (Aß) peptide -- acts at the earliest stage of Alzheimer's to initiate a range of abnormalities leading to the loss of groups of neurons critical for memory formation.

22 Jul 2015

New model helps to answer longstanding question in cancer science

A paper published today in the Proceedings of the National Academy of Sciences argues against the commonly held "accumulation of mutations" model of oncogenesis in favor of a model that depends on evolutionary pressures acting on populations of cells.

22 Jul 2015

GUMC physician leads new national clinical trial for melanoma treatment

A Georgetown University Medical Center physician renowned for his research in melanoma will lead a new national clinical trial involving novel treatments for the disease. The study compares the sequencing of two groups of drugs -- both effective in treating melanoma.

22 Jul 2015

Common environmental chemicals may act separately or together to increase risk of cancer

Common environmental chemicals assumed to be safe at low doses may act separately or together to disrupt human tissues in ways that eventually lead to cancer, according to a task force of nearly 200 scientists from 28 countries, including one from Oregon State University.

22 Jul 2015

New phase III cancer treatment trial opens for patient with advanced melanoma

A new phase III cancer treatment trial has opened for patient enrollment that examines two treatments that work in completely different ways yet have both been shown in previous clinical trials to be effective in treating patients with advanced melanoma, the ECOG-ACRIN Cancer Research Group announced today.

22 Jul 2015

Key differences identified among patients with ALS

Researchers on Mayo Clinic's Florida campus have identified key differences between patients with sporadic amyotrophic lateral sclerosis (ALS or Lou Gehrig's disease) and those with the most common genetic form of ALS, a mutation in the C9orf72 gene.

21 Jul 2015