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New Sophia DDM platform offers full BRCA1/2 analysis on a single NGS run

Sophia Genetics, the European leader in Clinical Genomics and Next Generation DNA Sequencing (NGS), has today launched a major upgrade to its Data Driven Medicine Platform (Sophia DDM), offering full BRCA1/2 analysis on a single NGS (Next Generation Sequencing) run, for the first time.

26 Nov 2014

Decrease in prevalence of VRSA infections in southeastern Michigan

A new study finds a decrease in an emergent strain of methicillin-resistant S. aureus (MRSA) that is resistant to last line defense antibiotics. Researchers examined the prevalence of vancomycin-resistant Staphylococcus aureus (VRSA) infections in southeastern Michigan, where the majority of these infections have occurred in the U.S.

26 Nov 2014

Researchers discover two common genetic variants associated with memory performance

In the largest study of the genetics of memory ever undertaken, an international researcher team including scientists from Boston University School of Medicine, have discovered two common genetic variants that are believed to be associated with memory performance.

25 Nov 2014

PPMD, Santhera Pharmaceuticals collaborate to study Duchenne muscular dystrophy

Parent Project Muscular Dystrophy, the leading advocacy organization working to end Duchenne muscular dystrophy (Duchenne) and Santhera Pharmaceuticals, a Swiss specialty pharmaceutical company focusing on the development and marketing of innovative pharmaceutical products for the treatment of mitochondrial and neuromuscular diseases, will collaborate on a benefit/risk study in Duchenne.

25 Nov 2014

Isis Pharmaceuticals announces initiation of ISIS-SMN Rx Phase 3 study in children with SMA

Isis Pharmaceuticals, Inc. announced today the initiation of a pivotal Phase 3 study evaluating ISIS-SMNRx in approximately 120 non-ambulatory children with spinal muscular atrophy (SMA).

25 Nov 2014

MACROD2 gene may explain why some breast cancers are resistant to tamoxifen

After mining the genetic records of thousands of breast cancer patients, researchers from the Johns Hopkins Kimmel Cancer Center have identified a gene whose presence may explain why some breast cancers are resistant to tamoxifen, a widely used hormone treatment generally used after surgery, radiation and other chemotherapy.

25 Nov 2014

Researchers reveal how cancer cells succeed at entrapping genetic program of growth inhibition

Healthy cells reduce their growth when there is a lack of oxygen (hypoxia). This makes it even more surprising that hypoxia is a characteristic feature of malignant tumours. In two publications in the current edition of the "Nature Communications" journal, researchers from Goethe University and Justus-Liebig-University of Giessen report on how cancer cells succeed at circumventing the genetic program of growth inhibition.

25 Nov 2014

Apitope's ATX-F8-117 granted orphan medicinal product designation for treatment of haemophilia A

Apitope, the drug discovery and development company focused on disease-modifying treatments for patients with autoimmune and allergic diseases, announced today that the European Medicines Agency Committee for Orphan Medicinal Products has granted orphan medicinal product designation to ATX-F8-117 for the treatment of haemophilia A.

25 Nov 2014

Two researchers receive Naomi Berrie Award for Outstanding Research in Diabetes

Columbia University Medical Center has presented Andrew Hattersley, DM, and Mark McCarthy, MD, with the 16th Naomi Berrie Award for Outstanding Research in Diabetes, for their work on the genetics of the disease. Their research has contributed to the discovery of new forms of the disease, improvements in diagnostic methodology, and the development of more effective treatments.

25 Nov 2014

Johns Hopkins researchers develop online tool to speed up creation of new drugs to prevent Ebola virus

Johns Hopkins biomedical engineers have developed a free, browser-based online tool that could speed up the creation of new drugs to treat or prevent Ebola virus infections.

24 Nov 2014

Dantrolene drug may be effective treatment for rare form of diabetes

A commonly prescribed muscle relaxant may be an effective treatment for a rare but devastating form of diabetes, researchers at Washington University School of Medicine in St. Louis report.

24 Nov 2014

New cell therapy offers hope for patients with liver cirrhosis

Liver disease patients could be helped by a new cell therapy to treat the condition.

24 Nov 2014

Authors review current progress in developing transgenic pig models for human diseases

Genetically engineered pigs, minipigs, and microminipigs are valuable tools for biomedical research, as their lifespan, anatomy, physiology, genetic make-up, and disease mechanisms are more similar to humans than the rodent models typically used in drug discovery research.

24 Nov 2014

Five USF faculty members named AAAS Fellow

Five faculty members from the University of South Florida in Tampa have been named Fellows of the American Association for the Advancement of Science. Election as an AAAS Fellow is an honor bestowed upon AAAS members by their peers.

24 Nov 2014

Abnormal connections between neurons cause motor coordination issues in autism

Abnormal connections between neurons are the likely cause of motor coordination issues seen in autism spectrum disorder. Using a mouse model of autism, scientists from the University of Chicago identified a malfunctioning neural circuit associated with reduced capacity for motor learning. This appears to arise from an inability to eliminate unneeded neural connections in the brain.

24 Nov 2014

NOS1AP gene may help explain biological process of schizophrenia

A gene associated with schizophrenia plays a role in brain development and may help to explain the biological process of the disease, according to new Rutgers research.

24 Nov 2014

Study identifies H3.3 protein as key regulator in cellular senescence

Changes to the structure of the protein histone H3.3 may play a key role in silencing genes that regulate cancer cell growth, according to a study led by researchers from the Icahn School of Medicine at Mount Sinai and published online this month in the journal Nature Communications.

23 Nov 2014

Researchers identify way to improve memory by manipulating molecule linked to Alzheimer's

In a new study conducted by the Sagol Department of Neurobiology at the University of Haifa and published recently in the Journal of Neuroscience, researchers report that they've found a way to improve memory by manipulating a specific molecule that is known to function poorly in old age and is closely linked to Alzheimer's disease.

23 Nov 2014

Researchers examine genomic landscapes of humans and mice

Looking across evolutionary time and the genomic landscapes of humans and mice, an international group of researchers has found powerful clues to why certain processes and systems in the mouse - such as the immune system, metabolism and stress response - are so different from those in people. Building on years of mouse and gene regulation studies, they have developed a resource that can help scientists better understand how similarities and differences between mice and humans are written in their genomes.

23 Nov 2014

New drug shows promise against treatment-resistant non-small cell lung cancer

A new drug that targets not only common cancer-causing genetic mutations in patients with non-small cell lung cancer (NSCLC), but also a form of the mutation that causes resistance to treatment, has shown promising results in patients in a phase I/II clinical trial.

23 Nov 2014