Mutation News and Research

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Study identifies key gene mutation responsible for type 2 diabetes in nearly 10% of patients

A multinational study has identified a key gene mutation responsible for type 2 diabetes in nearly 10 percent of patients of white European ancestry.

2 Mar 2011

Glycogen study findings shed light on possible route to treat Lafora disease

Indiana University scientists have solved a perplexing mystery regarding one of the body's main energy storage molecules, in the process shedding light on a possible route to treatment of a rare but deadly disease in teenagers.

2 Mar 2011

New study reviews latest scientific developments in autism

First consultant of child psychiatry in the UK reviews state of knowledge on autism. Despite substantial gains in knowledge and understanding of autism over the last three years, we are still no closer to either prevention or cure, according to Sir Michael Rutter, Professor of Developmental Psychopathology at the Institute of Psychiatry, King's College London.

2 Mar 2011

Vaccine-induced cellular immune responses against HIV-1 infection exert selective pressure on the virus

An AIDS vaccine tested in people, but found to be ineffective, influenced the genetic makeup of the virus that slipped past. The findings suggest new ideas for developing HIV vaccines.

2 Mar 2011

Researchers discover three genes that contribute to abnormal growth

By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer.

2 Mar 2011

Daiichi Sankyo enters merger agreement to acquire Plexxikon

Plexxikon Inc. today announced it has entered into a merger agreement with Daiichi Sankyo Company, Limited, a Japan-based global pharmaceutical company.

28 Feb 2011

p53 gene blocks EMT essential to cancer metastasis

Like a bounty hunter returning escapees to custody, a cancer-fighting gene converts organ cells that change into highly mobile stem cells back to their original, stationary state, researchers report online at Nature Cell Biology.

28 Feb 2011

Scientists discover killer protein that protects against development of cancer

Scientists at Trinity College Dublin have made an important discovery concerning how fledgling cancer cells self-destruct, which has the potential of impacting on future cancer therapies.

27 Feb 2011

New findings disclose mechanisms that control Rb2/p130 gene expression in lung cancer cells

Despite innumerable studies on lung cancer, many aspects of the disease have yet to be understood, including the role played by the retinoblastoma-related protein Rb2/p130 in the evolution of the disease.

27 Feb 2011

Phase III trial results: Erlotinib has comparable efficacy to chemotherapy with better tolerability against lung cancer

The targeted cancer drug erlotinib has comparable efficacy to chemotherapy, and is better tolerated, in hard-to-treat cases where a patient's cancer has progressed quickly after treatment with first-line therapy, the results of a new phase III trial show.

27 Feb 2011

New study discloses mechanism controlling Rb2/p130 gene expression in lung cancer cells

25 Feb 2011

Discovery highlights unexpected role for killer protein in 'autophagy'

Scientists at Trinity College Dublin have made an important discovery concerning how fledgling cancer cells self-destruct, which has the potential of impacting on future cancer therapies. The Trinity research group, led by Smurfit Professor of Medical Genetics, Professor Seamus Martin and funded by Science Foundation Ireland, has just published their findings in the internationally renowned journal, Molecular Cell.

25 Feb 2011

Evolutionary changes may have influenced metabolism and increased risk of diabetes

Researchers at the University of California, San Diego School of Medicine and Rady Children's Hospital-San Diego say an evolutionary gene mutation that occurred in human millions of years ago and our subsequent inability to produce a specific kind of sugar molecule appears to make people more vulnerable to developing type 2 diabetes, especially if they're overweight.

25 Feb 2011

Study: AEG-1 expression predicts erlotinib treatment response in patients with EGFR-mutant lung cancer

Spanish researchers have identified a gene whose expression level strongly predicts how well certain lung cancer patients will respond to treatment with the drug erlotinib.

25 Feb 2011

Study: Rare genetic mutations may provide clues to improve treatment for schizophrenia

Scientists are eyeing a rare genetic glitch for clues to improved treatments for some people with schizophrenia - even though they found the mutation in only one third of 1 percent of patients.

25 Feb 2011

Research: Loss of CMAH's function may make humans more prone to obesity and diabetes

As if the recent prediction that half of all Americans will have diabetes or pre-diabetes by the year 2020 isn't alarming enough, a new genetic discovery published online in the FASEB Journal provides a disturbing explanation as to why: we took an evolutionary "wrong turn."

25 Feb 2011

New study: Multiple full-term pregnancies may have higher risk of 'triple-negative' breast cancer

Full-term pregnancy has long been associated with a reduced risk of breast cancer, but a new study finds that the more times a woman gives birth, the higher her risk of "triple-negative" breast cancer, a relatively uncommon but particularly aggressive subtype of the disease.

24 Feb 2011

Positive results from Vertex VX-770 Phase 3 STRIVE study in patients with CF

Vertex Pharmaceuticals Incorporated today announced positive results from the Phase 3 STRIVE study of VX-770, an oral medicine in development that targets the defective protein that causes cystic fibrosis.

24 Feb 2011

Research: Gene mutation linked to schizophrenia may aid in new drug development

In a major advance for schizophrenia research, an international team of scientists led by the University of California, San Diego School of Medicine and involving Trinity College Dublin researchers has identified a gene mutation strongly linked to schizophrenia that may be an important new target for the development of drug therapies.

24 Feb 2011

Progeria-derived iPS cells may treat aging-related disease in children

The current pace of population aging is without parallel in human history but surprisingly little is known about the human aging process, because lifespans of eight decades or more make it difficult to study. Now, researchers at the Salk Institute for Biological Studies have replicated premature aging in the lab, allowing them to study aging-related disease in a dish.

24 Feb 2011

Mutation News and Research

Study identifies key gene mutation responsible for type 2 diabetes in nearly 10% of patients

Glycogen study findings shed light on possible route to treat Lafora disease

New study reviews latest scientific developments in autism

Vaccine-induced cellular immune responses against HIV-1 infection exert selective pressure on the virus

Researchers discover three genes that contribute to abnormal growth

Daiichi Sankyo enters merger agreement to acquire Plexxikon

p53 gene blocks EMT essential to cancer metastasis

Scientists discover killer protein that protects against development of cancer

New findings disclose mechanisms that control Rb2/p130 gene expression in lung cancer cells

Phase III trial results: Erlotinib has comparable efficacy to chemotherapy with better tolerability against lung cancer

New study discloses mechanism controlling Rb2/p130 gene expression in lung cancer cells

Discovery highlights unexpected role for killer protein in 'autophagy'

Evolutionary changes may have influenced metabolism and increased risk of diabetes

Study: AEG-1 expression predicts erlotinib treatment response in patients with EGFR-mutant lung cancer

Study: Rare genetic mutations may provide clues to improve treatment for schizophrenia

Research: Loss of CMAH's function may make humans more prone to obesity and diabetes

New study: Multiple full-term pregnancies may have higher risk of 'triple-negative' breast cancer

Positive results from Vertex VX-770 Phase 3 STRIVE study in patients with CF

Research: Gene mutation linked to schizophrenia may aid in new drug development

Progeria-derived iPS cells may treat aging-related disease in children

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

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

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