Mutation News and Research

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Study identifies mechanism that interrupts normal p53 gene function leading to tumor development

The p53 gene has been a well-documented player in the prevention of tumors. It is considered the most frequently mutated gene in human tumors with more than half harboring p53 mutations (Bennett et al., 1999). These mutations often can be caused by disruption in normal p53 function.

11 Jun 2010

Researchers validate effectiveness of genome sequencing process for hereditary genetic diseases

A research team led by Dr. Nada Jabado at the MUHC Research Institute and Dr. Jacek Majewski at McGill University has proven for the first time that it is possible to identify any genetic disease in record time thanks to a powerful and reliable exome sequencing method. The exome, a small part of the genome ((less than) 2%), is of crucial interest with regard to research on genetic diseases as it accounts for 85% of mutations.

10 Jun 2010

Clarient becomes preferred genetic testing lab for Generation Health

Clarient, Inc., a premier technology and services resource for pathologists, oncologists and the pharmaceutical industry, today announced a new contractual agreement with Generation Health, Inc. (GH). This agreement makes Clarient a preferred genetic testing lab for GH, thereby ensuring reimbursement of diagnostic tests done for GH's nationwide network of payor clients and expanding Clarient's potential market. GH is a genetic benefit management company partially-owned by CVS Caremark, the nation's largest pharmacy healthcare provider.

10 Jun 2010

Researchers differentiate human stem cells to become heart cells with cardiomyopathy

Researchers at Mount Sinai School of Medicine have for the first time differentiated human stem cells to become heart cells with cardiomyopathy, a condition in which the heart muscle cells are abnormal. The discovery will allow scientists to learn how those heart cells become diseased and from there, they can begin developing drug therapies to stop the disease from occurring or progressing. The study is published in the June 9th issue of Nature.

10 Jun 2010

Investigative Workshop aims to discuss current achievements, challenges in modeling solid tumors

With high human mortality associated with cancerous tumors, there is a worldwide need for a better understanding of why a tumor starts to grow and what makes it continue to grow. Mathematical modeling can provide some of the answers.

10 Jun 2010

New genetic discoveries from Autism Genome Project

An international consortium of researchers working under the auspices of Autism Speaks, the world's largest autism science and advocacy organization, has announced new genetic discoveries from the second phase of its collaborative study: the Autism Genome Project. The results were published today in the journal Nature, one of the world's most respected peer-reviewed scientific publications.

10 Jun 2010

World's largest DNA scan reveals new genetic changes in autistic children

The world's largest DNA scan for familial autism has uncovered new genetic changes in autistic children that are often not present in their parents. Identified in less than 1 percent of the population, these rare variants occur nearly 20 percent more in autistic children.

10 Jun 2010

Mutations in ion channels cause rare inherited pain disorder: Research

A mutation that enhances the function of a specific ion channel has been identified as the cause of a rare inherited pain disorder. The research, published by Cell Press in the June 10 issue of the journal Neuron, proposes a potential treatment for the disorder and may lead to a better understanding of chronic pain in humans.

10 Jun 2010

New findings may help researchers design drugs that can prevent HIV

Researchers at the University of Iowa Carver College of Medicine and University of Nebraska Medical Center have created a three-dimensional picture of an important protein that is involved in how HIV -- the virus responsible for AIDS -- is produced inside human cells. The picture may help researchers design drugs that can prevent HIV from reproducing.

10 Jun 2010

Interim results from PROPEL study of RG7128 submitted as abstract to AASLD for Annual Liver Meeting

Pharmasset, Inc. announced today that the interim results from the PROPEL study conducted by its partner Roche demonstrate that RG7128 triple combination therapy was safe and well tolerated. In that study, the safety profile of RG7128 (1000mg BID or 500mg BID), when administered for 8 or 12 weeks with Pegasys (peginterferon alfa-2a) and Copegus (ribavirin), the standard of care, was similar to the safety profile of SOC alone.

9 Jun 2010

S*BIO completes enrollment in SB1518 JAK2 inhibitor Phase 2 clinical trials for myelofibrosis

S*BIO Pte Ltd today announced that it has completed enrollment of patients in two separate Phase 2 clinical trials for its potent and orally-active JAK2 inhibitor SB1518 at multiple clinical sites in the U.S. and Australia for the treatment of myelofibrosis (MF).

9 Jun 2010

4% of South Asian people carry mutated gene that causes heart failure

One in 25 people from India and other south Asian countries carries a mutated gene that causes heart failure.

9 Jun 2010

Research findings hold promise for debilitating emotional symptoms of FXS

The study, which appears in the journal the Proceedings of the National Academy of Sciences, is also of potential therapeutic significance-it showed that a brief pharmacological treatment is capable of correcting some of these synaptic deficits in mice genetically engineered to model FXS.

9 Jun 2010

NanoViricides anti-HIV drug candidates demonstrate efficacy in cell culture studies with HIV-1 isolates

NanoViricides, Inc. reports that its anti-HIV drug candidates demonstrated efficacy in the recently completed cell culture studies using two distinctly different HIV-1 isolates. The studies were performed in the laboratory of Carol Lackman-Smith at the Southern Research Institute, Frederick, Maryland.

8 Jun 2010

MicroStockProfit.com: ARIA reports net loss of $23.4M for three months ended March 31, 2010

MicroStockProfit.com announces an investment report featuring ARIAD Pharmaceuticals Inc. The report includes financial, comparative and investment analyses, and industry information you need to know to make an educated investment decision.

8 Jun 2010

Form of epigenetics may play role in pulmonary arterial hypertension: Researchers

A rare but fatal disease of blood vessels in the lung may be caused in part by aberrant silencing of genes rather than genetic mutation, new research reports. Pulmonary arterial hypertension, a syndrome characterized by gradual blockage of blood vessels in the lungs, has been linked to genetic causes in a small percentage of patients. But University of Chicago researchers have now found that a form of epigenetics - the modification of gene expression - causes the disease in an animal model and could contribute to the disease in humans.

8 Jun 2010

Quintiles announces comprehensive suite of PI3K biomarker assays

Quintiles today announced a comprehensive suite of biomarker assays to help biopharmaceutical companies investigate the phosphoinositide 3-kinases (PI3K) cancer survival pathway, the focus of numerous anti-cancer therapies under development. Understanding the PI3K pathway is essential in developing new medicines to inhibit or block this pathway, thereby cutting off a metabolic function needed for certain cancers to survive.

8 Jun 2010

ARIAD presents updated positive data on AP24534 pan-BCR-ABL inhibitor for CML at 46th ASCO

ARIAD Pharmaceuticals, Inc. today announced updated clinical data from an ongoing Phase 1 study of its investigational pan-BCR-ABL inhibitor, AP24534, in patients with resistant and refractory chronic myeloid leukemia (CML). The data confirm strong clinical evidence of hematologic, cytogenetic and molecular anti-leukemia activity of AP24534, a multi-targeted kinase inhibitor, in heavily pretreated patients with CML, including those with the T315I mutation of the target protein, BCR-ABL.

8 Jun 2010

Protein p53 becomes activated to control creation of ova and spermatozoids: Study

Protein 53 is very important in protecting against cancer given that it prevents cancer-causing mutations from accumulating and its inactivation is closely linked to the proliferation of tumour cells. UAB lecturer Ignasi Roig participated in the study. Formed by an international research team, the study served to discover that this protein played an unexpected physiological role: it also becomes activated during the formation process of ova and spermatozoids.

8 Jun 2010

Genetic mutations help predict risk of prostate cancer in younger men: Researchers

Prostate cancer has become more common in younger men, and it's often more aggressive in these men. A new study from researchers at the University of Michigan Comprehensive Cancer Center has found that a series of genetic mutations could help detect this early onset prostate cancer.

8 Jun 2010

Mutation News and Research

Study identifies mechanism that interrupts normal p53 gene function leading to tumor development

Researchers validate effectiveness of genome sequencing process for hereditary genetic diseases

Clarient becomes preferred genetic testing lab for Generation Health

Researchers differentiate human stem cells to become heart cells with cardiomyopathy

Investigative Workshop aims to discuss current achievements, challenges in modeling solid tumors

New genetic discoveries from Autism Genome Project

World's largest DNA scan reveals new genetic changes in autistic children

Mutations in ion channels cause rare inherited pain disorder: Research

New findings may help researchers design drugs that can prevent HIV

Interim results from PROPEL study of RG7128 submitted as abstract to AASLD for Annual Liver Meeting

S*BIO completes enrollment in SB1518 JAK2 inhibitor Phase 2 clinical trials for myelofibrosis

4% of South Asian people carry mutated gene that causes heart failure

Research findings hold promise for debilitating emotional symptoms of FXS

NanoViricides anti-HIV drug candidates demonstrate efficacy in cell culture studies with HIV-1 isolates

MicroStockProfit.com: ARIA reports net loss of $23.4M for three months ended March 31, 2010

Form of epigenetics may play role in pulmonary arterial hypertension: Researchers

Quintiles announces comprehensive suite of PI3K biomarker assays

ARIAD presents updated positive data on AP24534 pan-BCR-ABL inhibitor for CML at 46th ASCO

Protein p53 becomes activated to control creation of ova and spermatozoids: Study

Genetic mutations help predict risk of prostate cancer in younger men: Researchers

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