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SV Bio receives CLIA certification for in silico diagnostics laboratory

Silicon Valley Biosystems today announced that it has received Clinical Laboratory Improvement Amendment certification from the California Department of Public Health for its in silico diagnostics laboratory.

13 Jun 2013

Scientists measure major difference between brains of patients with Alzheimer's disease and healthy family members

Scientists at Washington University School of Medicine in St. Louis have measured a significant and potentially pivotal difference between the brains of patients with an inherited form of Alzheimer's disease and healthy family members who do not carry a mutation for the disease.

13 Jun 2013

Study unravels cause of hearing loss in humans

A novel genetic mutation was first identified in 2010 as causing hearing loss in humans. Researchers have now discovered that this mutation induces malfunction of an inhibitor of an enzyme commonly found in our body that destroys proteins.

13 Jun 2013

Slowdowns in transport of important molecules may contribute to development of ALS

Slowdowns in the transport and delivery of nutrients, proteins and signaling molecules within nerve cells may contribute to the development of the neurodegenerative disorder ALS, according to researchers at the University of Illinois at Chicago College of Medicine.

13 Jun 2013

Researchers discover TTC7A gene that causes multiple intestinal atresia in newborns

Physicians and researchers from Sherbrooke, Montreal and Quebec City have conducted a study that has led to the discovery of a gene that causes multiple intestinal atresia (MIA), a rare and life-threatening hereditary disorder that affects newborns.

12 Jun 2013

TSRI scientists identify key triggers of cancer-blocking mechanism in cells

Scientists at The Scripps Research Institute have identified key triggers of an important cancer-blocking mechanism in cells.

12 Jun 2013

Understanding Phelan-McDermid Syndrome

In the first prospective study of its kind, Seaver Autism Center researchers at the Icahn School of Medicine at Mount Sinai provide new evidence of the severity of intellectual, motor, and speech impairments in a subtype of autism called Phelan-McDermid Syndrome.

12 Jun 2013

Research discovery could shed light on unsolved cases of arrhythmia

The heart's regular rhythm is crucial to the delivery of oxygenated blood and nutrients to all the organs of the body. It is regulated by a bundle of cells called "the pacemaker," which use electrical signals to set the pace of the heart. Dysfunction in this mechanism can lead to an irregular heartbeat, known as arrhythmia, and often necessitates the implantation of an artificial pacemaker.

12 Jun 2013

Studies demonstrate that combined therapy could destroy drug-resistant cells within melanoma tumor

Advanced metastatic melanoma is a disease that has proven difficult to eradicate. Despite the success of melanoma-targeting drugs, tumors inevitably become drug resistant and return, more aggressive than before. In the current issue of the journal Cancer Cell, however, researchers at The Wistar Institute describe how they increase the effectiveness of anti-melanoma drugs by combining anticancer therapies with diabetes drugs.

12 Jun 2013

ARIAD Pharmaceuticals initiates ponatinib Phase 2 trial in adult patients with metastatic GIST

ARIAD Pharmaceuticals, Inc. today announced the initiation of the Phase 2 trial of Iclusig (ponatinib) in adult patients with metastatic and/or unresectable gastrointestinal stromal tumors.

11 Jun 2013

Prostate cancer and DNA: an interview with Dr. Jianfeng Xu, Wake Forest School of Medicine

Prostate cancer development is associated with both inherited and acquired genetic alterations. More than 70 inherited genetic variants have been consistently identified in human DNA that may contribute to susceptibility or risk of prostate cancer.

11 Jun 2013

Surgical oncologist receives grant further explore tumor suppressor function of mutated gene

Darren Carpizo, MD, PhD, a surgical oncologist in the Liver Cancer and Bile Duct Cancer Care Program at the Cancer Institute of New Jersey, has been awarded a $200,000 grant from the Sidney Kimmel Foundation for Cancer Research to further explore the effects of a compound identified in his laboratory found to restore tumor suppressor function of a mutated gene in cancer cells.

11 Jun 2013

Brain circuits involved in compulsive behavior reveal a surprising connection with obesity

What started as an experiment to probe brain circuits involved in compulsive behavior has revealed a surprising connection with obesity.

11 Jun 2013

Viewpoints: Selling Obamacare in Arizona; 'Hassle-free' marketplace; Seeking the 'grand bargain'

You may not admit it, but you are a fan of Obamacare and Gov. Jan Brewer knows it. The Republicans who run the Arizona legislature don't like Obamacare. And the Republicans who control the U.S. House of Representatives don't like it. But you do. You may deny it. You may not even know it. But you do. And that will help the governor get her Medicaid expansion plan through the legislature (EJ Montini, 6/6).

11 Jun 2013

Cytosine methylation plays key role in development of childhood ALL

Changes in an epigenetic mechanism that turns expression of genes on and off may be as important as genetic alterations in causing pediatric acute lymphoblastic leukemia, according to a study led by scientists at St. Jude Children's Research Hospital and published in the June 10 online edition of the Journal of Clinical Investigation.

11 Jun 2013

African medicinal plants contain chemicals that may help stop spread of cancer cells

African medicinal plants contain chemicals that may be able to stop the spread of cancer cells. This is the conclusion of researchers following laboratory experiments conducted at Johannes Gutenberg University Mainz (JGU).

10 Jun 2013

Scientists find that mice develop age-related progressive motor symptoms of Parkinson's disease

The presence of Lewy bodies in nerve cells, formed by intracellular deposits of the protein α-synuclein, is a characteristic pathologic feature of Parkinson's Disease (PD). In the quest for an animal model of PD that mimics motor and non-motor symptoms of human PD, scientists have developed strains of mice that overexpress α-synuclein.

10 Jun 2013

Viewpoints: Will 'rate shock' grow?; Krugman says GOP spite is driving opposition to Medicaid expansion; Determining who owns genes

Any plausible health care reform, the various conservative alternatives to Obamacare included, would necessarily have losers as well as winners, and as far as potential losers go single young men with above-average incomes are not precisely the country's most disadvantaged demographic. If you think the current system is flawless, then I suppose any rate increase anywhere is a strike against health care reform.

10 Jun 2013

Novel abnormalities in FGFR gene identified in a spectrum of cancers

Novel abnormalities in the FGFR gene, called FGFR fusions, were identified in a spectrum of cancers, and preliminary results with cancer cells harboring FGFR fusions suggested that some patients with these cancers may benefit from treatment with FGFR inhibitor drugs, according to data published in Cancer Discovery, a journal of the American Association for Cancer Research.

10 Jun 2013

Genetic testing for cancer-causing mutations in affected families is very low, study finds

A new study of the use of genetic testing for cancer-causing mutations in affected families in France has found that its take-up is very low.

10 Jun 2013

Mutation News and Research

SV Bio receives CLIA certification for in silico diagnostics laboratory

Scientists measure major difference between brains of patients with Alzheimer's disease and healthy family members

Study unravels cause of hearing loss in humans

Slowdowns in transport of important molecules may contribute to development of ALS

Researchers discover TTC7A gene that causes multiple intestinal atresia in newborns

TSRI scientists identify key triggers of cancer-blocking mechanism in cells

Understanding Phelan-McDermid Syndrome

Research discovery could shed light on unsolved cases of arrhythmia

Studies demonstrate that combined therapy could destroy drug-resistant cells within melanoma tumor

ARIAD Pharmaceuticals initiates ponatinib Phase 2 trial in adult patients with metastatic GIST

Prostate cancer and DNA: an interview with Dr. Jianfeng Xu, Wake Forest School of Medicine

Surgical oncologist receives grant further explore tumor suppressor function of mutated gene

Brain circuits involved in compulsive behavior reveal a surprising connection with obesity

Viewpoints: Selling Obamacare in Arizona; 'Hassle-free' marketplace; Seeking the 'grand bargain'

Cytosine methylation plays key role in development of childhood ALL

African medicinal plants contain chemicals that may help stop spread of cancer cells

Scientists find that mice develop age-related progressive motor symptoms of Parkinson's disease

Viewpoints: Will 'rate shock' grow?; Krugman says GOP spite is driving opposition to Medicaid expansion; Determining who owns genes

Novel abnormalities in FGFR gene identified in a spectrum of cancers

Genetic testing for cancer-causing mutations in affected families is very low, study finds

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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