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Children's Oakland recruits patients for deferiprone clinical trial to treat PKAN

A groundbreaking, international clinical trial of an iron chelation drug, deferiprone, to treat the rare and devastating neurodegenerative disease, pantothenate kinase-associated neurodegeneration (PKAN), began last month at the trial's only North American site, Children's Hospital & Research Center Oakland.

17 Jan 2013

Hypercoagulable markers identified in upper arm thrombosis patients

Coagulation tests are warranted in young women undergoing surgery for subclavian vein thrombosis, especially patients with Paget-Schroetter syndrome unrelated to physical activity, say US clinicians.

17 Jan 2013

Scientists identify new mechanism for schistosomiasis-bladder cancer connection

About 200 million people across 75 of the poorest countries in the world are now infected by the blood parasite Schistosoma haematobium (S. haematobium). The infection causes severe urogenital disease, but also causes bladder cancer in a number of patients and why this occurs is not clear.

17 Jan 2013

SF3B1 gene mutations in uveal melanoma linked to favorable features

Melanomas that develop in the eye often are fatal. Now, scientists at Washington University School of Medicine in St. Louis report they have identified a mutated gene in melanoma tumors of the eye that appears to predict a good outcome.

17 Jan 2013

Some epileptic seizures may originate in glia: Study

Epileptic seizures occur when neurons in the brain become excessively active. However, a new study from MIT neuroscientists suggests that some seizures may originate in non-neuronal cells known as glia, which were long believed to play a mere supporting role in brain function.

17 Jan 2013

Positive gene therapy results in large mammals of Duchenne muscular dystrophy

Usually, results from a new study help scientists inch their way toward an answer whether they are battling a health problem or are on the verge of a technological breakthrough. Once in a while, those results give them a giant leap forward. In a preliminary study in a canine model of Duchenne muscular dystrophy (DMD), University of Missouri scientists showed exactly such a leap using gene therapy to treat muscular dystrophy.

17 Jan 2013

UCI study identifies transgenerational effects of tributyltin

Exposing pregnant mice to low doses of the chemical tributyltin - which is used in marine hull paint and PVC plastic - can lead to obesity for multiple generations without subsequent exposure, a UC Irvine study has found.

17 Jan 2013

Boehringer Ingelheim receives FDA Priority Review for afatinib to treat EGFR mutation-positive NSCLC

Boehringer Ingelheim today announced that the New Drug Application (NDA) for its investigational oncology compound afatinib has been accepted for filing and granted Priority Review by the U.S. Food and Drug Administration (FDA).

17 Jan 2013

Scientists determine structure of Ltn1 protein

Using an innovative approach, scientists at The Scripps Research Institute (TSRI) have determined the structure of Ltn1, a recently discovered "quality-control" protein that is found in the cells of all plants, fungi and animals.

17 Jan 2013

Astellas announces FDA acceptance of Tarceva sNDA for EGFR activating mutation-positive NSCLC

Astellas Pharma US, Inc., a U.S. subsidiary of Tokyo-based Astellas Pharma Inc., today announced that the U.S. Food and Drug Administration (FDA) has accepted for filing a supplemental New Drug Application (sNDA) for Tarceva (erlotinib) for first-line use in people with locally advanced or metastatic non-small cell lung cancer (NSCLC) whose tumors have epidermal growth factor receptor (EGFR) activating mutations.

17 Jan 2013

New method based on mass sequencing can detect hereditary breast and ovarian cancer syndrome

Researchers of the Catalan Institute of Oncology (ICO) at the Bellvitge Biomedical Research Institute (IDIBELL) have developed and validated a new method to diagnose hereditary breast and ovarian cancer syndrome based on mass sequencing of BRCA1 and BRCA2 genes. The model is based on a genetic and bioinformatic analysis which has been proved very effective.

17 Jan 2013

ARHGEF28 gene mutations present in amyotrophic lateral sclerosis: Research

Researchers at Western University in London, Canada, have identified a new genetic mutation for amyotrophic lateral sclerosis (ALS), opening the door to future targeted therapies. Dr. Michael Strong, a scientist with Western's Robarts Research Institute and Distinguished University Professor in Clinical Neurological Sciences at the Schulich School of Medicine & Dentistry, and colleagues found that mutations within the ARHGEF28 gene are present in ALS.

16 Jan 2013

Study: Patients with EGFR exon 20 insertions need targeted therapies

Exon 20 insertions are the third most common family of epidermal growth factor receptor (EGFR) mutations found in non-small-cell lung cancer (NSCLC). Little is known about cancers harboring these mutations aside from their lack of response to EGFR tyrosine kinase inhibitors, impairing the development of effective targeted therapies. A recent study published in the February 2013 issue of the International Association for the Study of Lung Cancer's (IASLC) Journal of Thoracic Oncology, concludes that patients with EGFR exon 20 insertions have similar clinical characteristics to those with common EGFR mutations, but a poorer prognosis.

16 Jan 2013

Researchers identify new group of growth factor receptors that signal to brain tumours

One in 25,000 people worldwide is affected by neurofibromatosis type 2 (NF2), a condition where the loss of a tumour suppressor called Merlin results in multiple tumours in the brain and nervous system.

16 Jan 2013

Stem cell transplantation prevents decrease in heart function associated with DMD

Researchers have shown that transplanting stem cells derived from normal mouse blood vessels into the hearts of mice that model the pathology associated with Duchenne muscular dystrophy (DMD) prevents the decrease in heart function associated with DMD.

16 Jan 2013

MI-ONCOSEQ program identifies NAB2-STAT6 fusion in solitary fibrous tumors

It started with a 44-year-old woman with solitary fibrous tumor, a rare cancer seen in only a few hundred people each year. By looking at the entire DNA from this one patient's tumor, researchers have found a genetic anomaly that provides an important clue to improving how this cancer is diagnosed and treated.

16 Jan 2013

Janssen receives EC approval for PREZISTA 800mg tablet to treat HIV

Janssen R&D Ireland announced today that the European Commission (EC) has approved a new PREZISTA (darunavir) 800mg tablet allowing people living with HIV to take one darunavir tablet once a day.

16 Jan 2013

NEDD9 gene controls growth of progenitor cells that give rise to breast tumors

Breast cancer is the second leading cause of cancer deaths among women in the United States. Many of these deaths occur when there is an initial diagnosis of invasive or metastatic disease. A protein called NEDD9-which regulates cell migration, division and survival-has been linked to tumor invasion and metastasis in a variety of cancers.

16 Jan 2013

Study explains how Timothy syndrome mutation causes wiring defects that underlie cognition

A new finding in neuroscience for the first time points to a developmental mechanism linking the disease-causing mutation in an autism-related disorder, Timothy syndrome, and observed defects in brain wiring, according to a study led by scientist Ricardo Dolmetsch and published online yesterday in Nature Neuroscience.

16 Jan 2013

Intermittent therapy may be answer to treating drug-resistant melanoma

Findings from a study carried out in mice suggest that an intermittent dosing strategy may be the answer to combating lethal tumor resistance to the BRAF inhibitor vemurafenib, in patients with late-stage BRAF-mutated melanoma.

14 Jan 2013