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Study establishes copper’s role in fat metabolism

A new study is further burnishing copper's reputation as an essential nutrient for human physiology. A research team led by a scientist at the Department of Energy's Lawrence Berkeley National Laboratory and at the University of California, Berkeley, has found that copper plays a key role in metabolizing fat.

7 Jun 2016

Unlocking the first gene to cause otosclerosis: an interview with Dr Ralph Holme

Otosclerosis is a common cause of hearing loss, particularly amongst young adults. It normally starts in their 20s or 30s and it affects about 1 in 200 hundred people. In the UK, about 300,000 people are affected by the condition.

7 Jun 2016

Innovative mouse model could provide new strategy to arrest growth of pancreatic cancer

Pancreatic ductal adenocarcinoma, the most common of pancreatic cancers, is extraordinarily lethal, with a 5-year survival rate of just 6 percent. Chemotherapy treatments are poorly effective, in part due to a high degree of drug-resistance to currently used regimens.

7 Jun 2016

Northwestern Medicine scientists link TMEM230 gene mutations to Parkinson's disease development

Northwestern Medicine scientists have discovered a new cause of Parkinson's disease -- mutations in a gene called TMEM230. This appears to be the third gene definitively linked to confirmed cases of the common movement disorder.

7 Jun 2016

Scientists use X-rays to study how eculizumab prevents immune system from damaging kidney tissue

In collaboration with Alexion Pharmaceuticals, Inc., scientists from Aarhus University have used X-rays to understand how the therapeutic antibody eculizumab prevents our immune system from destroying red blood cells and damaging kidney tissue.

6 Jun 2016

Improved research tool may open door to effective HIV vaccine designs

Vaccines are usually medicine's best defense against the world's deadliest microbes. However, HIV is so mutable that it has so far effectively evaded both the human immune system and scientists' attempts to make an effective vaccine to protect against it.

6 Jun 2016

Delivering genetic test results over the phone may help ease cost, burden for at-risk cancer patients

Delivering genetic test results to patients at risk for cancer-causing genetic mutations over the phone helps to ease cost and transportation burdens and, compared to receiving results in person, does not cause patients additional stress, according to a new study from the Abramson Cancer Center of the University of Pennsylvania which will be presented at the American Society of Clinical Oncology Annual Meeting.

6 Jun 2016

Cobimetinib combined with vemurafenib shows added benefit for melanoma with BRAF V600 mutation

Cobimetinib has been approved since November 2015 in combination with vemurafenib for the treatment of adults with advanced, i.e. metastatic or unresectable, melanoma with a BRAF V600 mutation.

6 Jun 2016

Rare DNA alteration may increase rsk of multiple sclerosis

Scientists at the University of British Columbia and Vancouver Coastal Health have proven that multiple sclerosis (MS) can be caused by a single genetic mutation - a rare alteration in DNA that makes it very likely a person will develop the more devastating form of the neurological disease.

6 Jun 2016

Giving chemotherapy after radiotherapy delays rare brain tumour growth

GIVING chemotherapy after radiotherapy delays further growth of a rare type of brain tumour, increasing the number of patients alive at five years from 44 per cent to 56 per cent.

6 Jun 2016

Targeted therapy rucaparib shows promise in treating pancreatic cancer patients with BRCA mutation

The targeted therapy rucaparib, which has demonstrated robust clinical activity in ovarian cancer patients with a BRCA mutation, also showed promise in previously treated pancreatic cancer patients with the mutation, according to results from a phase II clinical study presented by Susan M. Domchek, MD, executive director of the Basser Center for BRCA at the Abramson Cancer Center of the University of Pennsylvania, at the American Society of Clinical Oncology Annual Meeting.

6 Jun 2016

MBC Project engages patients directly to accelerate cancer research

A crowd-sourcing strategy aimed at accelerating research into metastatic breast cancer has connected advocacy groups, social media, and a dedicated web site to register more than 2,000 patients from all 50 states in its first seven months, say researchers from Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard.

6 Jun 2016

New research reveals advances that could change gynecologic cancer standard-of-care treatments

Advances that could change gynecologic cancer standard-of-care treatments are the centerpiece of key studies being presented by researchers from The University of Texas MD Anderson Cancer Center's Department of Gynecologic Oncology and Reproductive Medicine at the 2016 Annual Meeting of the American Society of Clinical Oncology.

6 Jun 2016

Misuse of anabolic steroids may increase heart problems in ARVC patients

Research has already shown that taking anabolic steroids is associated with high blood pressure and an increased risk of developing heart conditions such as left ventricular hypertrophy.

6 Jun 2016

New treatment shows promise against hard-to-treat eye cancer

Eye cancer took the life of author and neurologist Oliver Sacks last year, bringing attention to the rare and deadly disease. Scientists have tried to develop precision treatments against cancers like this one, but the mutations that cause them have proven difficult to block with drugs.

3 Jun 2016

Immunotherapy with experimental monoclonal antibody could reduce neuroblastoma tumors

Neuroblastoma tumors shrank, some dramatically, in 80 percent of newly diagnosed, young, high-risk patients enrolled in a Phase II clinical trial that included an experimental monoclonal antibody. The immunotherapy agent was produced on the St. Jude Children's Research Hospital campus where the study is still underway.

3 Jun 2016

Fluctuations in tRNA may play vital role in cancer metastasis

At any given moment, the human genome spells out thousands of genetic words telling our cells which proteins to make. Each word is read by a molecule known as a tRNA.

3 Jun 2016

BRCA gene mutations raise risk of breast, ovarian and other cancers

BRCA Share, a public-private BRCA gene datashare initiative, today announced the public release of a large collection of new data on genetic variants in the BRCA1 and BRCA2 genes.

From Quest Diagnostics 2 Jun 2016

Researchers explore use of miR-192 as clinical marker for pancreatic cancer

Pancreatic cancer is regarded as the cancer type with the lowest survival rates. Fewer than seven in 100 patients survive the first five years after diagnosis. Clinicians attribute this devastating prognosis to two circumstances: Pancreatic cancers often do not cause any signs or symptoms and by the time they are detected they have already reached a very advanced stage in most cases.

2 Jun 2016

New mouse model offers more insight into development of ASD in humans

A new mouse model, developed by researchers at the University of Wisconsin-Madison, is the first to show that when more of a specific biological molecule moves between different parts of nerve cells in the mouse brain, it can lead to behaviors that resembles some aspects of autism spectrum disorder (ASD) in humans.

2 Jun 2016

Mutation News and Research

Study establishes copper’s role in fat metabolism

Unlocking the first gene to cause otosclerosis: an interview with Dr Ralph Holme

Innovative mouse model could provide new strategy to arrest growth of pancreatic cancer

Northwestern Medicine scientists link TMEM230 gene mutations to Parkinson's disease development

Scientists use X-rays to study how eculizumab prevents immune system from damaging kidney tissue

Improved research tool may open door to effective HIV vaccine designs

Delivering genetic test results over the phone may help ease cost, burden for at-risk cancer patients

Cobimetinib combined with vemurafenib shows added benefit for melanoma with BRAF V600 mutation

Rare DNA alteration may increase rsk of multiple sclerosis

Giving chemotherapy after radiotherapy delays rare brain tumour growth

Targeted therapy rucaparib shows promise in treating pancreatic cancer patients with BRCA mutation

MBC Project engages patients directly to accelerate cancer research

New research reveals advances that could change gynecologic cancer standard-of-care treatments

Misuse of anabolic steroids may increase heart problems in ARVC patients

New treatment shows promise against hard-to-treat eye cancer

Immunotherapy with experimental monoclonal antibody could reduce neuroblastoma tumors

Fluctuations in tRNA may play vital role in cancer metastasis

BRCA gene mutations raise risk of breast, ovarian and other cancers

Researchers explore use of miR-192 as clinical marker for pancreatic cancer

New mouse model offers more insight into development of ASD in humans

Industry Focus eBook - Neurology/Neuroscience - 2nd edition eBook

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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