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Luminex launches FDA-cleared xTAG Cystic Fibrosis 60 Kit v2 diagnostic test

Luminex Corporation, the worldwide leader in multiplexed solutions, today announced the full commercial launch of its xTAG Cystic Fibrosis 60 Kit v2, a new diagnostic test that can simultaneously screen a single blood sample for up to 60 cystic fibrosis-causing genetic mutations in a matter of hours.

From Thermo Fisher Scientific Inc. 27 Aug 2010

Study on impact of harmful de novo gene mutations on autism, schizophrenia

An international study led by University of Montreal scientists suggests family history may not be a good predictor of the presence of mutations predisposing to autism or schizophrenia. The findings show how new or de novo gene mutations alterations of the cell's DNA play a role in these devastating conditions.

27 Aug 2010

Data from PLX4032 Phase 1 clinical trial in melanoma patients with BRAF mutation published

Plexxikon today announced publication of data from the Phase 1 clinical trial of PLX4032 (RG7204), confirming that treatment of metastatic melanoma patients with the BRAF V600E mutation resulted in significant tumor shrinkage in the majority of patients. Specifically, in the melanoma extension cohort of the study, nearly all patients showed some response; 81 percent of patients had tumor shrinkage of at least 30 percent.

26 Aug 2010

Treating metastatic melanoma tumors with specific genetic signature shows promising results

Use of an experimental targeted drug to treat metastatic melanoma tumors with a specific genetic signature was successful in more than 80 percent of patients in a phase 1 clinical trial.

26 Aug 2010

PLX4032 therapy results in tumor shrinkage in metastatic melanoma patients

A multicenter study has concluded that treatment with a new targeted therapy called PLX4032 (also called RG7204) resulted in significant tumor shrinkage in 80 percent of patients with advanced melanoma.

26 Aug 2010

Critical mechanistic link between mutant protein and disease pathogenesis in ALS uncovered

New research uncovers what may be a primary neuron-damaging insult that occurs in an inherited form of a devastating neurodegenerative disorder. The study, published by Cell Press in the August 26th issue of the journal Neuron, describes a critical mechanistic link between a mutant protein and disease pathogenesis in an animal model of amyotrophic lateral sclerosis (ALS).

26 Aug 2010

CFHR5 nephropathy linked to genetic mutation in innate immune system

A rare form of kidney disease linked to a genetic mutation in the innate immune system has been identified by researchers funded by the Wellcome Trust and the Medical Research Council.

26 Aug 2010

Gene linked to Fuchs corneal dystrophy discovered

A 13-member research team led by University of Oregon scientist Dr. Albert O. Edwards has found a gene likely responsible for Fuchs corneal dystrophy, an inheritable genetic disorder and leading cause of corneal transplant operations.

26 Aug 2010

Ataxin 2 gene mutation contributes to Lou Gehrig's disease: Research

An international study led by biologists and neuroscientists from the University of Pennsylvania has identified a new genetic risk factor for amyotrophic lateral sclerosis, commonly known as ALS or Lou Gehrig's disease.

26 Aug 2010

Scientists discover Magnetic Resonance Spectroscopy can rapidly diagnose degenerative disorders

Magnetic Resonance Spectroscopy can distinguish between neurological diseases in patients without clear symptoms.A team of American scientists claim that a new method of testing for neurological diseases could provide doctors with a rapid and non-invasively method of diagnosing degenerative disorders.

25 Aug 2010

Agilent Technologies introduces SureSelect Human All Exon v2 Target Enrichment kit for cancer assay

Agilent Technologies Inc.today introduced the SureSelect Human All Exon v2 Target Enrichment kit, which was developed in close collaboration with the Broad Institute of MIT and Harvard. The kit, the 15th SureSelect product in Agilent's portfolio, is a single tube assay that allows researchers to streamline experiments by sequencing the expressed genome while discarding regions not of interest.

25 Aug 2010

Researchers identify specific gene responsible for Kuf's disease

A North Carolina State University researcher has helped to locate and identify a gene responsible for a fatal neurodegenerative disease that affects American Staffordshire terriers. This same gene may be responsible for a similar rare, fatal disease in humans. Its discovery will lead to improved screening and diagnosis of the disease in dogs and is the first step in working toward a cure for both canines and humans.

25 Aug 2010

Mayo researchers develop new laboratory cell lines to study anaplastic thyroid cancer

To their deep dismay, researchers at Mayo Clinic discovered several years ago that laboratory samples of anaplastic thyroid cancer (ATC) they were using to help them find new treatments for this lethal disease were probably some other kind of cancer. It quickly became evident that the situation in their lab was common throughout the world. Up to half of the cell lines that were supposed to originate from patients with this rare thyroid cancer were either colon or melanoma cancer.

25 Aug 2010

Researchers identify molecular signals that impact male fertility: Research

Male infertility is a common medical problem, affecting millions of men in the United States annually. Its causes include an inability to make productive sperm. Now, using yeast as a model organism, researchers at the University of Pennsylvania School of Medicine are beginning to identify the molecular signals that could in part underlie that problem.

25 Aug 2010

AP reports on efforts to monitor authenticity of antimalarials, other drugs in Africa

The Associated Press reports on a recent effort to use text messages to track the authenticity of antimalarials in Africa, where "more than 30 percent of malaria medicines are estimated to be fake."

24 Aug 2010

Specific drugs can prevent lethal effects of Parkinson's disease: Research

Researchers at Johns Hopkins have shown that using specific drugs can protect nerve cells in mice from the lethal effects of Parkinson's disease. The researchers' findings are published in the August 22 issue of Nature Medicine.

24 Aug 2010

APC dysfunction prevents synapse function required for learning, memory: Study

A clue to the causes of autism and mental retardation lies in the synapse, the tiny intercellular junction that rapidly transfers information from one neuron to the next. According to neuroscientists at Tufts University School of Medicine, with students from the Sackler School of Graduate Biomedical Sciences at Tufts, a protein called APC plays a key role in synapse maturation, and APC dysfunction prevents the synapse function required for typical learning and memory.

23 Aug 2010

Researchers find new way to study oncogene's role in DNA repair

A key step in understanding the origins of familial breast cancer has been made by two teams of scientists at the University of California, Davis. The researchers have purified, for the first time, the protein produced by the breast cancer susceptibility gene BRCA2 and used it to study the oncogene's role in DNA repair.

23 Aug 2010

New diagnostic tool proves cost-effective in identifying rare genetic disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.

23 Aug 2010

Combination of 2 FDA approved drugs eliminate HIV infection

Researchers at the University of Minnesota Academic Health Center have identified two drugs that, when combined, may serve as an effective treatment for HIV.

21 Aug 2010