Mutation News and Research

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Response Genetics, GSK sign non-exclusive license agreement for BRAF mutational analysis technology

Response Genetics, Inc., a company focused on the development and sale of molecular diagnostic tests for cancer, today announced it has signed a non-exclusive license agreement with GlaxoSmithKline ("GSK"). Under the terms of the agreement, GSK gains certain rights to Response Genetics' proprietary PCR analysis technology and diagnostic expertise to assess BRAF gene mutations in human tumor samples. Payments will be made to Response Genetics upon achivement of agreed-to milestones.

12 May 2010

Prenatal screening, genetic counseling essential for preventing alpha-thalassemia: Researchers

Researchers from Mahidol University have developed a rapid, high-throughput screening method for prevention and control of thalassemia. The related report by Munkongdee et al, "Rapid diagnosis of α-thalassemia by melting curve analysis," appears in the May 2010 issue of The Journal of Molecular Diagnostics.

12 May 2010

Amorfix, Epitomics collaborate to develop high-affinity monoclonal antibodies against cancer targets

Amorfix Life Sciences and Epitomics, Inc. announced today that they have entered into an agreement to develop high-affinity monoclonal antibodies against a number of targets for cancer. Amorfix has identified several disease specific epitopes (DSEs) on misfolded proteins with their proprietary ProMIS(TM) computational platform discovery technology, which will be used by Epitomics to generate highly specific monoclonal antibodies (mAbs).

11 May 2010

New multicenter trial achieves 71% survival in AML children

More individualized therapy and better supportive care helped push the survival for children with acute myeloid leukemia (AML) to 71 percent three years after diagnosis, according to new research led by St. Jude Children's Research Hospital investigators and reported in the medical journal The Lancet Oncology. The survival rate of 71 percent is 20 percent better than previously reported U.S. rates and is similar to the success achieved in a 2009 Japanese study, said Jeffrey Rubnitz, M.D., Ph.D., a member of the St. Jude Oncology department.

11 May 2010

SNP biomarker could reduce guesswork associated with prescribing drugs

A tiny gene mutation in human liver cells could one day influence how high or low a dose patients need of about half of the clinically used drugs on the market, new research suggests.

11 May 2010

Research may aid in developing new cancer therapies

Immortality and uncontrolled cell division are the fundamental differences between cancer cells and normal cells.

11 May 2010

UC San Diego researchers discover potential new treatment for familial adenomatous polyposis

A team of University of California, San Diego School of Medicine researchers has discovered that common intestinal bacteria appear to promote tumor growths in genetically susceptible mice, but that tumorigenesis can be suppressed if the mice are exposed to an inhibiting protein enzyme.

10 May 2010

UT Southwestern offers advanced lung-cancer patients free screenings of tumors for genetic mutations

UT Southwestern Medical Center is the only site in North Texas participating in a national study that offers advanced lung-cancer patients free screenings of their tumors for genetic mutations, some of which might be targets for treatment with existing or experimental therapies.

10 May 2010

UT Southwestern researchers uncover core function of gene involved in Fragile X syndrome

Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the "pruning" of nerve connections in the brain. Their findings appear in the April 29 issue of Neuron.

10 May 2010

Animal study reveals intestinal bacteria can promote tumor growth

10 May 2010

Chemical changes in genetic material regulate activity of many genes

Chemical changes in the genetic material, known as epigenetic modifications, regulate the activity of many genes. Thus, attachment of methyl groups to DNA often inactivates important cellular growth brakes. Therefore, this process called methylation is believed to be a major cause of uncontrolled division of cancer cells. Specific enzymes, the DNA methyltransferases, are responsible for methylation.

7 May 2010

Fragile X syndrome iPS cells and embryonic stem cells behave differently: Study

In the last three years, a new technique for reprogramming adult cells has given scientists an easier and less controversial way to harness the power of embryonic-like stem cells to study human disease from its earliest beginnings in hopes of gleaning new insights into the root causes of disease and developing new therapies.

7 May 2010

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Policies allowing genes to be patented can make it more difficult for patients to access testing for important disease-causing gene mutations, according to a series of papers in a special online supplement published by Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

7 May 2010

Ohio scientists demonstrate existence of effective technology for nationwide newborn screening of SMA

Scientists in Ohio studying Spinal Muscular Atrophy (SMA) have concluded that the technology now exists to carry out nationwide screening of newborn children and pregnant mothers. The study, published in the American Journal of Medical Genetics, reveals that effective screening may allow parents to find proactive treatments before the symptoms become irreversible.

7 May 2010

Advances in genetic research could help develop personalized pain medications

In the not too distant future, it may be possible to discern an individual's genetic predisposition to chronic pain conditions and treat them proactively to prevent lifetime afflictions, according to research presented today at the American Pain Society's (www.ampainsoc.org) annual scientific meeting.

7 May 2010

Neuroscientist Snyder presents annual Ellis S. Grollman Lecture at UMB

If a drug was developed to block a key protein linked to the onset of Huntington's Disease, it could have a clear path to the part of the brain most affected by the disease, while not bothering other parts of the brain and body, said distinguished neuroscientist Solomon H. Snyder, MD, to an audience of about 300 students and faculty at the University of Maryland, Baltimore (UMB).

6 May 2010

Researchers to identify rare genetic mutation to produce histamine against TS

A single, very unusual family with Tourette syndrome has led Yale School of Medicine researchers to identify a rare mutation in a gene that is required to produce histamine. The finding provides a new framework to understand many years of data on the role of histamine function in the brain and points to a potentially novel approach to treatment of tics and Tourette.

6 May 2010

Genomic Health reports 22% revenue growth, 58% decrease in net loss for first-quarter 2010

Genomic Health, Inc. today reported financial results and business progress for the quarter ended March 31, 2010.

6 May 2010

Researchers discover link between sporadic and familial forms of ALS

Researchers from Northwestern University Feinberg School of Medicine have discovered a link between sporadic and familial forms of amyotrophic lateral sclerosis, a neurodegenerative disease also known as Lou Gehrig's disease.

6 May 2010

SAEC, Cerner collaborate to identify genetic markers associated with drug-related SAEs

The International Serious Adverse Events Consortium (SAEC) announced today that Cerner Corporation will collaborate with this novel, international research consortium, which is working to identify genetic markers that may help predict which individuals are at risk for a range of serious drug-related adverse events (SAEs). Researchers collaborating with the SAEC will use Cerner Discovere-, Cerner's web-based research platform, to gather data for studies that focus on two SAEs: liver injury and hypersensitivity reactions.

6 May 2010

Mutation News and Research

Response Genetics, GSK sign non-exclusive license agreement for BRAF mutational analysis technology

Prenatal screening, genetic counseling essential for preventing alpha-thalassemia: Researchers

Amorfix, Epitomics collaborate to develop high-affinity monoclonal antibodies against cancer targets

New multicenter trial achieves 71% survival in AML children

SNP biomarker could reduce guesswork associated with prescribing drugs

Research may aid in developing new cancer therapies

UC San Diego researchers discover potential new treatment for familial adenomatous polyposis

UT Southwestern offers advanced lung-cancer patients free screenings of tumors for genetic mutations

UT Southwestern researchers uncover core function of gene involved in Fragile X syndrome

Animal study reveals intestinal bacteria can promote tumor growth

Chemical changes in genetic material regulate activity of many genes

Fragile X syndrome iPS cells and embryonic stem cells behave differently: Study

Gene patenting policies affect patient access to testing for disease-causing genes: Study

Ohio scientists demonstrate existence of effective technology for nationwide newborn screening of SMA

Advances in genetic research could help develop personalized pain medications

Neuroscientist Snyder presents annual Ellis S. Grollman Lecture at UMB

Researchers to identify rare genetic mutation to produce histamine against TS

Genomic Health reports 22% revenue growth, 58% decrease in net loss for first-quarter 2010

Researchers discover link between sporadic and familial forms of ALS

SAEC, Cerner collaborate to identify genetic markers associated with drug-related SAEs

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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