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Study: Strain of bacteria infections in humans originally come from cattle

A strain of bacteria that causes skin and soft tissue infections in humans originally came from cattle, according to a study to be published in mBio-, the online open-access journal of the American Society for Microbiology.

13 Aug 2013

New research opens door for development of treatments capable of stopping Alzheimer's disease

New research just out in the journal Science Translational Medicine opens the door for the development of treatments capable of stopping Alzheimer's disease (AD) before its first symptoms, that is to say before any crucial damage occurs. In fact, if AD is a devastating disorder it is also an extremely slow one; it takes more than 10 years for the first symptoms to appear making this preclinical period (pre-symptoms) the ideal time to intervene.

13 Aug 2013

Patients with rare epilepsy aphasia share mutations on same gene

Some patients with a rare type of epilepsy called epilepsy aphasia have something else in common. They have mutations in the same gene. Epilepsy aphasia disorders are characterized by seizures and speech abnormalities.

13 Aug 2013

Learning "grammar" helps determine whether gene gets switched on or not

Researchers have probed deep into the cell's genome, beyond the basic genetic code, to begin learning the "grammar" that helps determine whether or not a gene gets switched on to make the protein it encodes.

13 Aug 2013

Researchers identify first disease gene for idiopathic focal epilepsy in childhood

More than 50 million people worldwide have epilepsy, with a third of these being children. The most common forms of epilepsy in children occur without any apparent trigger and only affect certain regions of the brain.

12 Aug 2013

Study of childhood epilepsies links two new genes to severe forms of disease

A genetic study of childhood epilepsies has linked two new genes to severe forms of disease and provides a novel strategy for identifying therapy targets. This study used a cutting-edge genetic technique, called exome sequencing, to search for new mutations that are not inherited.

12 Aug 2013

Neuroscientists discover protein associated with Alzheimer's Disease

A team of neuroscientists has identified a modification to a protein in laboratory mice linked to conditions associated with Alzheimer's Disease. Their findings, which appear in the journal Nature Neuroscience, also point to a potential therapeutic intervention for alleviating memory-related disorders.

12 Aug 2013

Study shows schizophrenia, bipolar disorder share the most common genetic variation

The largest genome-wide study of its kind has determined how much five major mental illnesses are traceable to the same common inherited genetic variations. Researchers funded in part by the National Institutes of Health found that the overlap was highest between schizophrenia and bipolar disorder; moderate for bipolar disorder and depression and for ADHD and depression; and low between schizophrenia and autism.

12 Aug 2013

Study reveals genetic mutations linked to Parkinson's may play a role in death of brain cells

Researchers have discovered how genetic mutations linked to Parkinson's disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments.

12 Aug 2013

Tubingen researchers resolve how a plant steroid hormone makes plants grow

If one wants to better understand how plants grow, one must analyse the chemistry of life in its molecular detail. Michael Hothorn from the Friedrich-Miescher-Laboratory of the Max Planck Society in T-bingen and his team are doing just that. Their latest work now reveals that a plant membrane receptor requires a helper protein to sense a growth-promoting steroid hormone and to transduce this signal across the cell membrane.

9 Aug 2013

Research suggests blocking DNA repair complex helps fight therapy-resistant leukemia

New research posted online by the Nature journal Leukemia suggests blocking part of a DNA repair complex that helps some types of leukemia resist treatment can increase the effectiveness of chemotherapy and enhance survival.

9 Aug 2013

Study: 3 enzymes required for building sugar superstructure involved in muscular dystrophies

For many inherited diseases, such as cystic fibrosis or Huntington disease, the disease-causing genetic mutation damages or removes a protein that has an essential role in the body. This protein defect is the root cause of the disease symptoms.

9 Aug 2013

Eteplirsen offers great hope to patients with Duchenne muscular dystrophy

Results from a clinical trial of eteplirsen, a drug designed to treat Duchenne muscular dystrophy, suggest that the therapy allows participants to walk farther than people treated with placebo and dramatically increases production of a protein vital to muscle growth and health.

8 Aug 2013

Researchers identify mechanism responsible for loss of tumor-suppressor gene in soft-tissue sarcomas

Researchers have discovered a novel mechanism responsible for the loss of a critical tumor-suppressor gene in rhabdomyosarcoma and other soft-tissue sarcomas, rare cancers that strike mainly children and often respond poorly to treatment. Their cause is largely unknown.

8 Aug 2013

TSRI scientists decode important molecular signal that guides development of neocortex

Scientists at The Scripps Research Institute have decoded an important molecular signal that guides the development of a key region of the brain known as the neocortex. The largest and most recently evolved region of the brain, the neocortex is particularly well developed in humans and is responsible for sensory processing, long-term memory, reasoning, complex muscle actions, consciousness and other functions.

8 Aug 2013

Scientists identify important molecular signal that guides development of brain

Scientists at The Scripps Research Institute (TSRI) have decoded an important molecular signal that guides the development of a key region of the brain known as the neocortex.

8 Aug 2013

Study shows tamoxifen prevents breast cancers in many women

The global study was led by University of Melbourne and the Peter MacCallum Cancer Centre and published in the Journal of Clinical Oncology today.

8 Aug 2013

DNA mutation 'signature' identified in urinary tract cancers linked to birthwort herb

Genomic sequencing experts at Johns Hopkins partnered with pharmacologists at Stony Brook University to reveal a striking mutational signature of upper urinary tract cancers caused by aristolochic acid, a plant compound contained in herbal remedies used for thousands of years to treat a variety of ailments such as arthritis, gout and inflammation.

8 Aug 2013

Cancer-linked mitosis: an interview with Professor Scott Kern, Johns Hopkins University School of Medicine

Mitosis is the process by which a cell gives rise to two daughter cells. It’s the basis behind the growth of the human body, the renewal of the human body as it ages, and unfortunately, the growth of cancers.

7 Aug 2013

Researchers identify specific genetic mutations that contribute to disorders of brain development

A collaborative team of researchers including scientists from UCLA has uncovered evidence that a specific genetic alteration appears to contribute to disorders of brain development, including schizophrenia. They also found that schizophrenia shares a common biological pathway with Fragile X mental retardation syndrome, a disorder associated with both intellectual impairment and autism.

7 Aug 2013

Mutation News and Research

Study: Strain of bacteria infections in humans originally come from cattle

New research opens door for development of treatments capable of stopping Alzheimer's disease

Patients with rare epilepsy aphasia share mutations on same gene

Learning "grammar" helps determine whether gene gets switched on or not

Researchers identify first disease gene for idiopathic focal epilepsy in childhood

Study of childhood epilepsies links two new genes to severe forms of disease

Neuroscientists discover protein associated with Alzheimer's Disease

Study shows schizophrenia, bipolar disorder share the most common genetic variation

Study reveals genetic mutations linked to Parkinson's may play a role in death of brain cells

Tubingen researchers resolve how a plant steroid hormone makes plants grow

Research suggests blocking DNA repair complex helps fight therapy-resistant leukemia

Study: 3 enzymes required for building sugar superstructure involved in muscular dystrophies

Eteplirsen offers great hope to patients with Duchenne muscular dystrophy

Researchers identify mechanism responsible for loss of tumor-suppressor gene in soft-tissue sarcomas

TSRI scientists decode important molecular signal that guides development of neocortex

Scientists identify important molecular signal that guides development of brain

Study shows tamoxifen prevents breast cancers in many women

DNA mutation 'signature' identified in urinary tract cancers linked to birthwort herb

Cancer-linked mitosis: an interview with Professor Scott Kern, Johns Hopkins University School of Medicine

Researchers identify specific genetic mutations that contribute to disorders of brain development

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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