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Study suggests lung cancer patients with HER2 mutations may benefit from anti-HER2 drugs

New results from a retrospective study conducted in Europe suggest that anti-HER2 treatments, like the widely used breast cancer agent trastuzumab (Herceptin), have anti-cancer effects in a small subset of patients with advanced non-small cell lung cancer (NSCLC) harboring specific HER2 protein mutations.

23 Apr 2013

Animal models of Huntington's disease allow better insights into disease's genetics

Scientific progress in Huntington's disease (HD) relies upon the availability of appropriate animal models that enable insights into the disease's genetics and/or pathophysiology.

23 Apr 2013

Researchers find deficiency in anti-tumor protein can delay DNA repair after radiation treatment

Researchers at Moffitt Cancer Center have found that a deficiency in an important anti-tumor protein, p53, can slow or delay DNA repair after radiation treatment. They suggest that this is because p53 regulates the expression of two enzymes (JMJD2b and SUV39H1) that control the folding of DNA.

23 Apr 2013

Gilead Sciences to present results from four Phase 3 clinical trials at International Liver Congress 2013

Gilead Sciences, Inc. today announced that detailed results from four Phase 3 clinical trials (NEUTRINO, FISSION, POSITRON and FUSION) evaluating sofosbuvir, the company's investigational once-daily nucleotide NS5B inhibitor for the treatment of chronic hepatitis C virus infection, will be presented this week in oral sessions at the 48th Annual Meeting of the European Association for the Study of the Liver in Amsterdam, The Netherlands.

23 Apr 2013

Researchers find tumors with ALK rearrangements can harbor additional mutations

The identification of potentially targetable kinase mutations has been an exciting advancement in lung cancer treatment.

23 Apr 2013

OHSU, Intel team up to develop technologies to make personalized genomic analysis faster

Oregon Health & Science University and Intel Corp. are teaming up to develop next-generation computing technologies that advance the field of personalized medicine by dramatically increasing the speed, precision and cost-effectiveness of analyzing a patient's individual genetic profile.

23 Apr 2013

Medical researchers race to find ways to use gene sequencing to fight cancer

Technology is quickly revamping medical care. The New York Times looks at the possible use of gene sequencing, while other news outlets examine apps and online tools that are helping Alzheimer's and autism caregivers.

23 Apr 2013

Cystic Fibrosis Foundation issues statement on Phase 2 clinical trial of Kalydeco, VX-661

The Cystic Fibrosis Foundation issued the following statement in response to an announcement by Vertex Pharmaceuticals Inc. regarding promising results from a Phase 2 clinical trial of its cystic fibrosis drug Kalydeco in combination with another potential CF therapy, VX-661.

23 Apr 2013

International team of researchers joins forces to decode genome of prehistoric fish

An enigmatic prehistoric fish has brought scientists at A*STAR's Institute of Molecular and Cell Biology (IMCB) together with researchers from all over the world to crack its genomic code.

22 Apr 2013

Phase 2 study of VX-661 and ivacaftor shows significant improvements in lung function among CF patients

Vertex Pharmaceuticals Incorporated today announced data from a Phase 2 study of VX-661 and ivacaftor that showed statistically significant improvements in lung function among adults with cystic fibrosis (CF) who have two copies (homozygous) of the most common mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, known as F508del.

22 Apr 2013

Advanced microscope reveals process where mutations lead to autism and other diseases

Using spinning disk microscopy on barely day-old zebra fish embryos, University of Oregon scientists have gained a new window on how synapse-building components move to worksites in the central nervous system.

22 Apr 2013

Study identifies potential drug targets that interfere with cancer metabolism

A massive study analyzing gene expression data from 22 tumor types has identified multiple metabolic expression changes associated with cancer.

22 Apr 2013

Researchers find new potential target for anti-telomerase cancer therapy

Researchers at UT Southwestern Medical Center have found that alternative splicing - a process that allows a single gene to code for multiple proteins - appears to be a new potential target for anti-telomerase cancer therapy.

20 Apr 2013

Study identifies seven new genetic regions associated with pulmonary fibrosis

A new genome-wide association study of more than 6,000 people has identified seven new genetic regions associated with pulmonary fibrosis. In findings published online in Nature Genetics on April 14, 2013, researchers at National Jewish Health, the University of Colorado and several other institutions found a number of genes associated with host defense, cell-cell adhesion and DNA repair, which provide clues to possible mechanisms underlying this currently untreatable disease.

20 Apr 2013

Three MGH projects named among Top 10 Clinical Research Achievements of 2012

Three projects led by Massachusetts General Hospital investigators have been named among the Clinical Research Forum's Top 10 Clinical Research Achievements of 2012.

19 Apr 2013

Abnormal protein translation leads to Fragile X ataxia, study finds

A bizarre twist on the usual way proteins are made may explain mysterious symptoms in the grandparents of some children with mental disabilities.

19 Apr 2013

Research shows how breakdowns in DNA copying process contribute to cancer

Research led by a scientist at the University of York has thrown new light on the way breakdowns in the DNA copying process inside cells can contribute to cancer and other diseases.

19 Apr 2013

Tel Aviv University researcher reveals the missing link between brain patterns and Alzheimer's

Evidence indicates that the accumulation of amyloid-beta proteins, which form the plaques found in the brains of Alzheimer's patients, is critical for the development of Alzheimer's disease, which impacts 5.4 million Americans.

19 Apr 2013

Three missense variants of BRCA1 gene linked to breast or ovarian cancer risk, study shows

Researchers of the hereditary cancer research group at the Bellvitge Biomedical Research Institute and the Catalan Institute of Oncology conducted a functional and structural study of seven missense variants of the BRCA1 gene concluding that three of these variants are pathogenic, linked to the risk of suffering breast or ovarian cancer.

19 Apr 2013

New assays are effective in managing patients with influenza virus infection

Over 40,000 people die each year in the United States from influenza-related diseases. In patients whose immune systems are compromised, antiviral therapy may be life-saving, but it needs to be initiated quickly. It is therefore crucial to diagnose and type the influenza rapidly.

18 Apr 2013

Mutation News and Research

Study suggests lung cancer patients with HER2 mutations may benefit from anti-HER2 drugs

Animal models of Huntington's disease allow better insights into disease's genetics

Researchers find deficiency in anti-tumor protein can delay DNA repair after radiation treatment

Gilead Sciences to present results from four Phase 3 clinical trials at International Liver Congress 2013

Researchers find tumors with ALK rearrangements can harbor additional mutations

OHSU, Intel team up to develop technologies to make personalized genomic analysis faster

Medical researchers race to find ways to use gene sequencing to fight cancer

Cystic Fibrosis Foundation issues statement on Phase 2 clinical trial of Kalydeco, VX-661

International team of researchers joins forces to decode genome of prehistoric fish

Phase 2 study of VX-661 and ivacaftor shows significant improvements in lung function among CF patients

Advanced microscope reveals process where mutations lead to autism and other diseases

Study identifies potential drug targets that interfere with cancer metabolism

Researchers find new potential target for anti-telomerase cancer therapy

Study identifies seven new genetic regions associated with pulmonary fibrosis

Three MGH projects named among Top 10 Clinical Research Achievements of 2012

Abnormal protein translation leads to Fragile X ataxia, study finds

Research shows how breakdowns in DNA copying process contribute to cancer

Tel Aviv University researcher reveals the missing link between brain patterns and Alzheimer's

Three missense variants of BRCA1 gene linked to breast or ovarian cancer risk, study shows

New assays are effective in managing patients with influenza virus infection

Improving healthcare sustainability through carbon data

Managing vibration in IVF laboratories

A New Approach to Preventing Bladder Cancer Recurrence

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