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Researchers raise awareness about ovarian cancers into synagogues across the country

This fall, the University of Pennsylvania's Basser Research Center for BRCA is taking its lifesaving efforts to raise awareness about hereditary breast and ovarian cancers on the road and into synagogues across the country.

30 Aug 2013

Findings establish gene as critical regulator of lung cancer tumor growth

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that a well-known cancer-causing gene implicated in a number of malignancies plays a far more critical role in non-small cell lung cancer, the most common form of the disease, than previously thought.

30 Aug 2013

Scientists identify enzyme mutation that occurs in castration-resistant prostate cancer

The mutation occurs in the androgen-synthesizing enzyme 3βHSD1 in castration-resistant prostate cancer (CRPC), according to research published online today in Cell. This mutation enables the tumor to make its own supply of androgens, a hormone that fuels the growth of the prostate cancer.

30 Aug 2013

BTNL2 gene mutation that impacts immune function increases risk of prostate cancer

A team of researchers led by Janet Stanford, Ph.D., of Fred Hutchinson Cancer Research Center has discovered that mutations in the gene BTNL2, which encodes a protein involved in regulating T-cell proliferation and cytokine production - both of which impact immune function - increase the risk of developing prostate cancer.

30 Aug 2013

Researchers identify mutation in CNGB1 gene causing PRA in Phalene and Papillon

Professor Hannes Lohi's research group at the University of Helsinki and Folkh-lsan Research Center, Finland, has identified a mutation in CNGB1 gene, causing progressive retinal atrophy (PRA) in the Phalene and Papillon dog breeds.

30 Aug 2013

Blood test provides tool essential to trials of therapies for Huntington's disease

An assay designed to measure normal and abnormal forms of the huntingtin protein - the mutated form of which causes Huntington's disease - was successful in detecting levels of the mutant protein in a large multicenter study of individuals at risk for the devastating neurological disorder.

30 Aug 2013

Researchers discover new gene mutations which cause devastating mitochondrial disorders

Researchers have identified a novel disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders.

30 Aug 2013

Experts share tips on preventing ovarian cancer

Ovarian cancer is the fourth leading cause of death in American women. Approximately 22,000 women are diagnosed annually and 14,000 die from the disease. September is Ovarian Cancer Awareness month and Mount Sinai experts are sharing tips on prevention.

29 Aug 2013

Problems with key enzymes potentially lead to autism spectrum disorder

Problems with a key group of enzymes called topoisomerases can have profound effects on the genetic machinery behind brain development and potentially lead to autism spectrum disorder, according to research announced today in the journal Nature.

29 Aug 2013

Researchers identify possible treatment strategy for ALS and other neurodegenerative disorders

Researchers have tied mutations in a gene that causes amyotrophic lateral sclerosis and other neurodegenerative disorders to the toxic buildup of certain proteins and related molecules in cells, including neurons. The research, published recently in the scientific journal Cell, offers a new approach for developing treatments against these devastating diseases.

29 Aug 2013

FDA categorizes Cepheid's Xpert MTB/RIF test as 'Moderate Complexity' under CLIA

Cepheid today announced the U.S. Food & Drug Administration has categorized Cepheid's Xpert MTB/RIF test as 'Moderate Complexity' under the Clinical Laboratory Improvement Amendments.

28 Aug 2013

URI professor studies rare hereditary disorder Fanconi anemia in children

When 2-year-old Logan Stevenson served as best man at his parents' wedding just days before he died of a rare genetic disorder, it drew international attention to a disease about which few people had ever heard. Hearing about Logan's story added another level of urgency to the research being conducted by University of Rhode Island Associate Professor Niall Howlett.

28 Aug 2013

UTHealth researchers find cause for rare type of bleeding disorder

Fifteen years ago, a hematologist came to Dianna Milewicz, M.D., Ph.D., with a puzzle: Multiple generations of an East Texas family suffered from a moderately severe bleeding disorder, but it wasn't hemophilia.

28 Aug 2013

Study shows genetic test to classify gastric cancers and match them to therapies offer best outcomes

Stomach cancer, one of the leading causes of cancer death worldwide, actually falls into three broad subtypes that respond differently to currently available therapies, according to researchers at Duke-NUS Graduate Medical School Singapore.

28 Aug 2013

Haplogen, Cemm Offer Huge Collection Of Mutant Cell Lines

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27 Aug 2013

Life Technologies announces end-to-end sequencing solution for whole human exome CNV analysis

Life Technologies Corporation today announced the first end-to-end sequencing solution for exon-level copy number variation analysis, which combines the Ion Reporter CNV data analysis workflow, the Ion AmpliSeq Exome Kit and the Ion Proton® System.

27 Aug 2013

Sigma Life Science releases genome editing tool for screening and exploratory studies

Sigma-Aldrich Corporation today announced that Sigma Life Science, its innovative biological products and services business, released Sigma CRISPRs, an inexpensive mammalian genome editing tool suitable for screening and exploratory studies.

27 Aug 2013

ASO may correct striatal transcriptional abnormalities and improve behavioral problems in HD mice

Findings from postmortem studies of the brains of Huntington's Disease (HD) patients suggest that transcriptional dysregulation may be an early step in the pathogenesis of HD before symptoms appear. Other studies report transcriptional alterations in the brains of some mouse models of HD.

27 Aug 2013

Scientists finds link between protein phosphorylation and Parkinson's disease

Clues left at the scene of the crime don't always point to the guilty party, as EPFL researchers investigating Parkinson's disease have discovered. It is generally accepted that the disease is aggravated when a specific protein is transformed by an enzyme.

27 Aug 2013

Comprehensive test of biomarkers have prognostic and diagnostic value in Parkinson's disease

Perelman School of Medicine researchers at the University of Pennsylvania report the first biomarker results reported from the Parkinson's Progression Markers Initiative (PPMI), showing that a comprehensive test of protein biomarkers in spinal fluid have prognostic and diagnostic value in early stages of Parkinson's disease.

27 Aug 2013

Mutation News and Research

Researchers raise awareness about ovarian cancers into synagogues across the country

Findings establish gene as critical regulator of lung cancer tumor growth

Scientists identify enzyme mutation that occurs in castration-resistant prostate cancer

BTNL2 gene mutation that impacts immune function increases risk of prostate cancer

Researchers identify mutation in CNGB1 gene causing PRA in Phalene and Papillon

Blood test provides tool essential to trials of therapies for Huntington's disease

Researchers discover new gene mutations which cause devastating mitochondrial disorders

Experts share tips on preventing ovarian cancer

Problems with key enzymes potentially lead to autism spectrum disorder

Researchers identify possible treatment strategy for ALS and other neurodegenerative disorders

FDA categorizes Cepheid's Xpert MTB/RIF test as 'Moderate Complexity' under CLIA

URI professor studies rare hereditary disorder Fanconi anemia in children

UTHealth researchers find cause for rare type of bleeding disorder

Study shows genetic test to classify gastric cancers and match them to therapies offer best outcomes

Haplogen, Cemm Offer Huge Collection Of Mutant Cell Lines

Life Technologies announces end-to-end sequencing solution for whole human exome CNV analysis

Sigma Life Science releases genome editing tool for screening and exploratory studies

ASO may correct striatal transcriptional abnormalities and improve behavioral problems in HD mice

Scientists finds link between protein phosphorylation and Parkinson's disease

Comprehensive test of biomarkers have prognostic and diagnostic value in Parkinson's disease

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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