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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 identifies individual role of electrical heterogeneity and fibre structure in AF

A virtual heart, developed at The University of Manchester, is revealing new information about one of the world's most common heart conditions.

From The University of Manchester 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

New initiative aims to accelerate biomarker search in Parkinson's

A new initiative aims to accelerate the search for biomarkers - changes in the body that can be used to predict, diagnose or monitor a disease - in Parkinson's disease, in part by improving collaboration among researchers and helping patients get involved in clinical studies.

16 Jan 2013

Tamoxifen can counteract some pathologic features in mouse model of DMD

A new study has found that tamoxifen, a well-known breast cancer drug, can counteract some pathologic features in a mouse model of Duchenne muscular dystrophy (DMD). At present, no treatment is known to produce long-term improvement of the symptoms in boys with DMD, a debilitating muscular disorder that is characterized by progressive muscle wasting, respiratory and cardiac impairments, paralysis, and premature death.

16 Jan 2013

Blocking cholesterol biosynthesis pathway in cancer cells appears to improve ability of common drugs

Shutting down a specific pathway in cancer cells appears to improve the ability of common drugs to wipe those cells out, according to new research from scientists at Fox Chase Cancer Center, published in the January issue of Cancer Discovery.

16 Jan 2013

Sp2 protein plays a key role in creation of neurons from stem cells

A protein known as Sp2 is key to the proper creation of neurons from stem cells, according to researchers at North Carolina State University. Understanding how this protein works could enable scientists to "program" stem cells for regeneration, which has implications for neural therapies.

16 Jan 2013

Fifteen established scientists to receive NARSAD Distinguished Investigator Grants

The Brain & Behavior Research Foundation (formerly NARSAD, the National Alliance for Research on Schizophrenia and Depression) announced the latest recipients of its highly competitive NARSAD Distinguished Investigator Grants.

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

Speech entrainment benefits stroke victims with Broca's aphasia

Stroke victims affected with loss of speech caused by Broca's aphasia have been shown to speak fluidly through the use of a process called "speech entrainment" developed by researchers at the University of South Carolina's Arnold School of Public Health.

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

Research shows genetic factors increase risk of visceral leishmaniasis

A new study published in Nature Genetics last week shows that genetics likely influence whether an individual develops visceral leishmaniasis, a lethal form of the parasitic disease transmitted by sandflies, the New York Times reports.

16 Jan 2013

Jan. issue of Behavioural Neurology features papers on aphasia and hemispatial neglect

Approximately half a million individuals suffer strokes in the US each year, and about one in five develops some form of post-stroke aphasia, the partial or total loss of the ability to communicate. By comparing different types of aphasia, investigators have been able to gain new insights into the normal cognitive processes underlying language, as well as the potential response to interventions.

16 Jan 2013

Study identifies 24 new copy number variants linked with autism

University of Utah (the U) researchers, in collaboration with several groups from around the country, published a paper on Monday, Jan. 14, 2013, following one of the biggest studies of its kind, that extends our understanding of genes related to autism spectrum diseases (ASDs) and advances methods for early detection and treatment.

16 Jan 2013

Health, science and genetics reporters invited to register now for ACMG annual genetics meeting

Health, science and genetics reporters are invited to register now for the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting, March 19-23, 2013 at the Phoenix Convention Center.

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

Experimental vaccine elicits antibodies that can protect against Ebola virus infection

Researchers at the National Institutes of Health (NIH) and Oregon Health & Science University (OHSU) have found that an experimental vaccine elicits antibodies that can protect nonhuman primates from Ebola virus infection.

16 Jan 2013

Patients with Parkinson's develop artistic talents after dopamine-inducing therapy

Parkinson's experts across the world have been reporting a remarkable phenomenon - many patients treated with drugs to increase the activity of dopamine in the brain as a therapy for motor symptoms such as tremors and muscle rigidity are developing new creative talents, including painting, sculpting, writing, and more.

16 Jan 2013

Medical Science News

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

ARHGEF28 gene mutations present in amyotrophic lateral sclerosis: Research

Study identifies individual role of electrical heterogeneity and fibre structure in AF

Study: Patients with EGFR exon 20 insertions need targeted therapies

New initiative aims to accelerate biomarker search in Parkinson's

Tamoxifen can counteract some pathologic features in mouse model of DMD

Blocking cholesterol biosynthesis pathway in cancer cells appears to improve ability of common drugs

Sp2 protein plays a key role in creation of neurons from stem cells

Fifteen established scientists to receive NARSAD Distinguished Investigator Grants

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

Speech entrainment benefits stroke victims with Broca's aphasia

Stem cell transplantation prevents decrease in heart function associated with DMD

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

Research shows genetic factors increase risk of visceral leishmaniasis

Jan. issue of Behavioural Neurology features papers on aphasia and hemispatial neglect

Study identifies 24 new copy number variants linked with autism

Health, science and genetics reporters invited to register now for ACMG annual genetics meeting

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

Experimental vaccine elicits antibodies that can protect against Ebola virus infection

Patients with Parkinson's develop artistic talents after dopamine-inducing therapy

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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