Mutation News and Research

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Exploiting cancer cell 'addiction' may lead to new therapies

A new study uncovers a gene expression signature that reliably identifies cancer cells whose survival is dependent on a common signaling pathway, even when the cells contain multiple other genetic abnormalities.

1 Jun 2009

Findings in epilepsy gene in animals may guide treatment directions for infants

Researchers studying a difficult-to-treat form of childhood epilepsy called infantile spasms have developed a line of mice that experiences seizures with features closely resembling those occurring in patients with infantile seizures. These genetically engineered mice provide a new opportunity for scientists to test treatments that may benefit children.

1 Jun 2009

Glioblastoma may originate in neural stem cells

University of Michigan scientists have found that a deficiency in a key tumor suppressor gene in the brain leads to the most common type of adult brain cancer. The study, conducted in mice that mimic human cancer, points the way to more effective future treatments and a way to screen for the disease early.

1 Jun 2009

Oligophrenin-1 signaling protein linked to mental retardation controls synapse maturation, plasticity

A team of neuroscientists at Cold Spring Harbor Laboratory (CSHL) has demonstrated the mechanism by which a signaling protein found throughout the brain controls the maturation and strength of excitatory synapses, the tiny gaps across which the majority of neurons communicate.

1 Jun 2009

“Misreading” of histone code linked to human cancer

The development of blood from stem cell to fully formed blood cell follows a genetically determined program. When it works properly, blood formation stops when it reaches maturity. But when it doesn't, genetic mutations can prevent the stop signal and cause the developing cells to turn cancerous. In research published in Nature, Rockefeller University scientists show for the first time that a misreading of the blood cells' histone code is responsible for acute myeloid leukemia, a rare form of the deadly blood cancer.

1 Jun 2009

Combination of gene therapy and induced pluripotent stem cells cure human genetic disease in vitro

A study led by researchers at the Salk Institute for Biological Studies, has catapulted the field of regenerative medicine significantly forward, proving in principle that a human genetic disease can be cured using a combination of gene therapy and induced pluripotent stem (iPS) cell technology. The study, published in the May 31, 2009 early online edition of Nature, is a major milestone on the path from the laboratory to the clinic.

31 May 2009

Cohesin protein disrupts gene function in Cornelia deLange syndrome

An international team of scientists studying a rare genetic disease discovered that a bundle of proteins with the long-established function of keeping chromosomes together also plays an important role in regulating genes in humans.

26 May 2009

Activated stem cells in damaged lungs could be first step toward cancer

Stem cells that respond after a severe injury in the lungs of mice may be a source of rapidly dividing cells that lead to lung cancer, according to a team of American and British researchers.

26 May 2009

ImmunoVaccine Technologies partners with FIT Biotech to advance therapeutic HIV vaccine

ImmunoVaccine Technologies Inc. (IVT), a Canadian vaccine development company, announced a research partnership with FIT Biotech, a Finland-based , clinical stage company that develops DNA vaccines. This research will formulate FIT Biotech's GTU MultiHIV DNA plasmid with IVT's DepoVax vaccine delivery system to advance a therapeutic HIV vaccine.

26 May 2009

New mouse model provides insight into human neuronal diseases

Neurosensory diseases are difficult to model in mice because their symptoms are complex and diverse. The genetic causes identified are often lethal when transferred to a mouse.

26 May 2009

Zebrafish provide insights into development and progression of melanoma

In a new study published in Disease Models & Mechanisms, scientists use the zebrafish to gain insight into the influence of known cancer genes on the development and progression of melanoma, an aggressive form of human skin cancer with limited treatment options.

26 May 2009

Immune genes adapt to parasites

Thank parasites for making some of our immune proteins into the inflammatory defenders they are today, according to a population genetics study that will appear in the June 8 issue of the Journal of Experimental Medicine (online May 25).

25 May 2009

Scientists cure mice of muscle disease that causes a Floppy Baby Syndrome

In a world first, West Australian scientists have cured mice of a devastating muscle disease that causes a Floppy Baby Syndrome - a breakthrough that could ultimately help thousands of families across the globe.

25 May 2009

Heart protein saves muscle

A heart muscle protein can replace its missing skeletal muscle counterpart to give mice with myopathy a long and active life, show Nowak et al. The findings will be published online on Monday, May 25, 2009 and will appear in the June 1, 2009 print issue of the Journal of Cell Biology.

25 May 2009

Scientists map sequence mutations of the 2009 H1N1 influenza A virus

In just two weeks from the time the first patient virus samples were made available, Singapore scientists report an evolutionary analysis of a critical protein produced by the 2009 H1N1 influenza A virus strain.

22 May 2009

Scientists pinpoint molecular cause of Alzheimer's disease

A discovery made by researchers at McGill University and the affiliated Lady Davis Research Institute for Medical Research at Montreal's Jewish General Hospital offers new hope for the early diagnosis and treatment of Alzheimer's disease.

22 May 2009

Genetic testing for breast or ovarian cancer risk may be greatly underutilized

Although a test for gene mutations known to significantly increase the risk of hereditary breast or ovarian cancer has been available for more than a decade, a new study finds that few women with family histories of these cancers are even discussing genetic testing with their physicians or other health care providers.

22 May 2009

Research suggests role of low vitamin D in cancer

In studying the preventive effects of vitamin D, researchers at the Moores Cancer Center at the University of California, San Diego, have proposed a new model of cancer development that hinges on a loss of cancer cells' ability to stick together. The model, dubbed DINOMIT, differs substantially from the current model of cancer development, which suggests genetic mutations as the earliest driving forces behind cancer.

22 May 2009

ChemGenex’s Omacetaxine to be showcased in three oral oresentations at EHA

ChemGenex Pharmaceuticals Limited announced today that new data from two clinical studies and one pre-clinical study with omacetaxine will be presented at oral sessions during the forthcoming 14th Congress of the European Hematology Association (EHA) in Berlin, Germany.

21 May 2009

Autism discovery may explain why disorder strikes boys four times more than girls

UCLA scientists have discovered a variant of a gene called CACNA1G that may increase a child's risk of developing autism, particularly in boys. The journal Molecular Psychiatry publishes the findings in its May 19 advance online edition.

19 May 2009