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Towards a drug to control cystic fibrosis

Harvard stem cell researchers at Massachusetts General Hospital (MGH) have taken a critical step in making possible the discovery in the relatively near future of a drug to control cystic fibrosis (CF), a fatal lung disease that claims about 500 lives each year, with 1,000 new cases diagnosed annually.

6 Apr 2012

Gene mutations, age of parents and autism

New research shows that several gene mutations sharply increase the chances that a child will develop autism spectrum disorders. The researchers have found further evidence that the risk increases with the age of the parents, particularly in fathers over age 35.

5 Apr 2012

Drug resistance woes hamper anti-malaria fight

Researchers have found that there is increasing resistance to the front-line treatments for malaria. A pair of studies published in The Lancet and the journal Science showed how the disease is moving fast into new territory and identified a region of the parasite's genome that may be responsible for mutating in order to survive.

5 Apr 2012

CHD8, SNC2A and KATNAL2 gene mutations lead to ASDs

Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. All three studies include lead investigators of the Autism Sequencing Consortium.

5 Apr 2012

New cell and animal model of IBC

Inflammatory breast cancer (IBC) is a very aggressive, often misunderstood type of cancer that is diagnosed more frequently in younger women compared with other types of breast cancer. The five-year survival rate is between 25 and 50 percent-significantly lower than the survival rate for other types of breast cancer. The reason for the poor prognosis is that IBC usually grows rapidly and often spreads quickly to other parts of the body, including the brain, bone and lymph nodes.

5 Apr 2012

Fathers more likely to transmit spontaneous mutations to children with ASDs

Researchers have turned up a new clue to the workings of a possible environmental factor in autism spectrum disorders (ASDs): fathers were four times more likely than mothers to transmit tiny, spontaneous mutations to their children with the disorders. Moreover, the number of such transmitted genetic glitches increased with paternal age. The discovery may help to explain earlier evidence linking autism risk to older fathers.

5 Apr 2012

New SORL1 gene causes early-onset Alzheimer's

A new gene that causes early-onset of Alzheimer's disease has been discovered by the research team of Dominique Campion at the Insert unit 1079 "Genetics of cancer and neuropsychiatric diseases" in Rouen.

5 Apr 2012

Reactivation of p53 may be a highly selective treatment modality for virally-induced lymphoma

Kaposi's sarcoma herpesvirus (KSHV) is a human tumor virus and an etiological agent for Kaposi's sarcoma and primary effusion lymphoma (PEL). PELs are aggressive lymphomas with reported median survival time shorter than six months after diagnosis.

4 Apr 2012

Impact of Personal Genomics Study to launch data collection phase

As genetic risk information plays an increasingly important role in the diagnosis and treatment of many diseases, private companies have made personal genomic testing for these risk factors widely available to the public. However, very little data has been gathered to understand the motivations and expectations of consumers of personal genomic services, the psychological and behavioral impact of these services, and the associated ethical, legal and social issues—until now.

4 Apr 2012

SFU receives NIH grant to develop effective HIV/AIDS vaccine

Jamie Scott, a Simon Fraser University professor and Canada Research Chair in molecular immunity, and three international collaborators are getting a hefty financial boost in their efforts to develop an effective HIV/AIDS vaccine.

4 Apr 2012

Researchers figure out how rapamycin causes diabetes

The drug known as rapamycin is widely used by cancer and transplant patients, and there are hints that it might even help us put off old age and live longer. But, it also comes with a downside: rapamycin leads to diabetes in as many as 15 percent of the people who take it.

4 Apr 2012

Genomic fortune-telling fails to provide informative guidance to most people

With sharp declines in the cost of whole genome sequencing, the day of accurately deciphering disease risk based on an individual's genome may seem at hand. But a study involving data of thousands of identical twins by Johns Hopkins investigators finds that genomic fortune-telling fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test results.

3 Apr 2012

MMRF announces unique oncology research partnership

The Multiple Myeloma Research Foundation (MMRF) today announced a unique oncology research partnership. This multi-year agreement involves several partners including the Translational Genomics Research Institute (TGen), Spectrum Health, and the Van Andel Research Institute.

3 Apr 2012

Scientists discover new serine protease: NSP4

Neutrophil granulocytes comprise important defences for the immune system. When pathogenic bacteria penetrate the body, they are the first on the scene to mobilise other immune cells via signal molecules, thereby containing the risk. To this end, they release serine proteases - enzymes that cut up other proteins to activate signal molecules. Scientists at the Max Planck Institute of Neurobiology in Martinsried have now discovered a new serine protease: neutrophil serine protease 4, or NSP4.

3 Apr 2012

Researchers discover multiple genes associated with meconium ileus

Cystic fibrosis (CF) is a devastating disease caused by mutations in the CFTR gene. In Canada, one in every 3,600 children born has the disease. Researchers have long been puzzled as to how individuals who carry the same CFTR mutations can experience such different courses of disease. Patients with CF are affected in multiple organs such as the lungs, pancreas and liver, to varying degrees.

3 Apr 2012

RainDance introduces new panel for cancer mutation screening

RainDance Technologies, Inc., the Digital Biology company, today announced the worldwide availability of its new panel for cancer mutation screening research using any next-generation sequencing (NGS) system.

2 Apr 2012

Blocking PRC2 protein may help protect against AML

Scientists at Cold Spring Harbor Laboratory have identified a candidate drug target for treating acute myeloid leukemia, a white blood cell cancer that proliferates out of control in the bone marrow.

2 Apr 2012

TGen to present TNBC study at AACR 2012 annual meeting

Because cases of Triple-Negative Breast Cancer (TNBC) are so genetically different, whole-genome sequencing is needed to detect the subtle molecular differences that might point to specific treatments for individual patients.

2 Apr 2012

Scientists use DNA sequencing to identify 'driver' mutations in cancer

Scientists at Washington University School of Medicine in St. Louis are using powerful DNA sequencing technology not only to identify mutations at the root of a patient's tumor - considered key to personalizing cancer treatment - but to map the genetic evolution of disease and monitor response to treatment.

2 Apr 2012

RNA binding motif protein 20 regulates titin splicing

Cardiomyopathy comprises a deterioration of the heart muscle that affects the organ's ability to efficiently pump blood through the body. Previously researchers have tied forms of the disease to the alternative splicing of titin, a giant protein that determines the structure and biomechanical properties of the heart, but the molecular mechanism remained unknown.

2 Apr 2012