Mutation News and Research

RSS

Infinity reports $18.4 million total revenue for second-quarter 2010

Infinity Pharmaceuticals, Inc., an innovative drug discovery and development company, today detailed recent developments in its product development portfolio and announced second quarter 2010 financial results.

4 Aug 2010

Researchers identify TACI; MyD88 activates immune system against infection

Researchers from Mount Sinai School of Medicine have found a new mechanism that explains how certain immune cells are activated to create protective antibodies against infections or pathological antibodies such as those present in autoimmune diseases like lupus and rheumatoid arthritis. The research is published online in the September issue of Nature Immunology.

4 Aug 2010

BCM collaborates with Roche NimbleGen for high throughput exome capture technology

The Baylor College of Medicine Human Genome Sequencing Center has standardized its target enrichment human disease research studies on Roche NimbleGen Sequence Capture Exome technology. The Baylor HGSC will sequence over 5,000 exomes in the next two years to identify genetic variants underlying multiple human diseases and will employ NimbleGen SeqCap EZ Exome and customized NimbleGen exome designs as the exome capture technology of choice. More than 15 different diseases will be investigated by Baylor HGSC, including brain, liver, pancreatic, colon, ovarian and bladder cancers, heart disease, diabetes, autism, and other inherited diseases with the goal of better understanding causative mutations and their impact on these diseases.

4 Aug 2010

Body’s natural cell suicide program may trigger tumor development: Study

Cancer research springs a surprise. Researchers at Walter and Eliza Hall Institute in Melbourne have found that programmed cell death (apoptosis) or cell suicide plays a role in tumor development. This process is an important phenomenon in our body as it helps remove damaged cells. Now apoptosis has been found to be protective against cancer formation and autoimmune diseases.

1 Aug 2010

Study implicates Fritz's role in human genetic disorders

Mutations in a gene known as "Fritz" may be responsible for causing human genetic disorders such as Bardet-Biedl syndrome, University of Texas at Austin developmental biologist John Wallingford and Duke University human geneticist and cell biologist Nicholas Katsanis have found.

31 Jul 2010

Families with male breast cancer perceive as being at higher risk: Study

People with a family history of male breast cancer perceive themselves to be at higher risk of developing the disease than do patients with a family history of female breast cancer; however those with male breast cancer in their families are less likely to know about or seek genetic testing than those with a family history of female breast cancer, according to a study led by researchers at the University of Louisville's James Graham Brown Cancer Center.

30 Jul 2010

Researchers discover three disease-causing genes in Salmonella

Researchers have discovered a novel mechanism in Salmonella that affects its virulence and its susceptibility to antibiotics by changing its production of proteins in a previously unheard of manner. This allows Salmonella to selectively change its levels of certain proteins to respond to inhospitable conditions.

30 Jul 2010

Researchers identify genetic mutation for Uner Tan Syndrome

A team of researchers from leading universities in Turkey and the United States have reported that they have identified the genetic mutation responsible for the Uner Tan Syndrome (UTS) using advanced genetic capture and sequencing technologies from Roche. The combined genomic technologies enabled the team of scientists to identify the causative mutation of this debilitating disease after years of mystery.

30 Jul 2010

Researchers discover enzyme crucial for DNA repair

Researchers have discovered an enzyme crucial to a type of DNA repair that also causes resistance to a class of cancer drugs most commonly used against ovarian cancer.Scientists from The University of Texas MD Anderson Cancer Center and the Life Sciences Institute of Zhejiang University in China report the discovery of the enzyme and its role in repairing DNA damage called cross-linking in the Science Express advance online publication of Science.

30 Jul 2010

AVEO second-quarter total revenues increase to $15.6 million

AVEO Pharmaceuticals, Inc., a biopharmaceutical company focused on discovering, developing and commercializing cancer therapeutics, today provided an update on recent research and development (R&D) and business accomplishments, and announced financial results for the quarter ended June 30, 2010.

29 Jul 2010

Exact Sciences to demonstrate methylation specific technology at AACC annual meeting

Exact Sciences Corp. today announced that data being presented this afternoon at the annual meeting of the American Association of Clinical Chemistry demonstrates that its methylation specific technology, using a combination of DNA methylation markers, detected 100 percent of colorectal cancers and precancers at a specificity cutoff of 100 percent in a preliminary study with colorectal tissue.

29 Jul 2010

Scientists identify new targets to develop treatment for HD

Scientists at the Buck Institute for Age Research have discovered that a particular family of enzymes are involved in the breakdown of proteins that modify the production of toxic fragments that lead to the pathology of Huntington's disease. These enzymes, matrix metalloproteinases, provide new targets for drug therapies for the disease - targets that have already been shown to respond to cancer drugs currently in clinical development.

29 Jul 2010

Loss of key nerve cells cause Parkinson's disease: Research

Scientists at the Stanford University School of Medicine have identified a molecular pathway responsible for the death of key nerve cells whose loss causes Parkinson's disease. This discovery not only may explain how a genetic mutation linked to Parkinson's causes the cells' death, but could also open the door to new therapeutic approaches for the malady.

29 Jul 2010

Positive results from study with Genome Sequencer FLX System for HIV drug-resistant mutation detection

454 Life Sciences, a Roche Company, has announced promising new results from a multi-site collaborative research study which used the company's Genome Sequencer FLX System to perform HIV drug-resistant mutation detection.

28 Jul 2010

BiondVax receives 2010 European Influenza Vaccines Technology Innovation Award

Frost & Sullivan is pleased to announce the award of its prestigious 2010 European Influenza Vaccines Technology Innovation Award to BiondVax Pharmaceuticals for their breakthrough work on a universal influenza vaccine. This vaccine, the Multimeric-001, is designed to provide multi-season and multi-strain protection against most influenza virus strains, including both seasonal and pandemic strains, and has the potential to eliminate the need for annual flu vaccination. BiondVax is entering Phase II clinical trials for the development of the Multimeric-001 universal influenza vaccine.

28 Jul 2010

New study reveals potential role of TGF-β1 in kidney disease

Fibrosis in the kidney is one of the key causes of progressive renal failure. High levels of the inflammatory molecule TGF-β1 in the kidney tubules due to tissue damage can cause fibrosis as well as nephron degeneration, resulting in loss of kidney function. To clarify the mechanisms regulating TGF-β1-mediated renal fibrosis, Koesters et al expressed high levels of TGF-β1 in renal tubules of mice. Nephron degeneration in this system was mediated by decomposition of the tubular cells. These data suggest that TGF-β1 may play a novel role in cell death of renal cells, thus contributing to renal fibrosis.

28 Jul 2010

PIK3CA, KRAS mutations in tumor can predict patients’ response to treatment: Research

Drugs such as everolimus that target the protein mTOR are used to treat several forms of cancer, but not all patients respond to the treatment. A team of researchers, led by Alberto Bardelli, at the University of Turin Medical School, Italy, has now identified a way to help predict which patients will respond to such drugs.

27 Jul 2010

Affymetrix releases new data for rapid design of custom arrays

Affymetrix, Inc.today announced that it has released an unparalleled data set based on extensive validation of novel SNPs from the 1000 Genomes Project. This data will give researchers access to more rare mutations for genome-wide association studies and will enable the rapid design of custom arrays for a variety of applications, including the validation of sequencing results.

27 Jul 2010

Researchers discover potential method for neurodegenerative disease detection

New investigations, initiated by research workers at CIC bioGUNE and led by Dr. Aitor Hierro, have opened possibilities for making progress in the knowledge and prediction of neurodegenerative diseases such as Amyotrophic Lateral Sclerosis (ALS), according to the journal of The Proceedings of the National Academy of Sciences of the United States of America.This study opens the possibility of research in humans to detect this pathology before the symptoms arise.

26 Jul 2010

Asuragen reports collaborative study results of advanced PCR-based molecular profiling of FMR1 gene

Asuragen, Inc. announced today the results from two collaborative studies, one with the University of California Davis M.I.N.D. Institute and another with Rush University Medical Center, that demonstrate comprehensive molecular profiling of the Fragile X Mental Retardation (FMR1) gene using advanced PCR-based methods.

26 Jul 2010