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Anti-seizure drug can be used to treat AT deficiency: Pitt researchers

The liver scarring of α1-antitrypsin deficiency, the most common genetic cause for which children undergo liver transplantation, might be reversed or prevented with a medication that has long been used to treat seizures, according to findings from Children's Hospital of Pittsburgh of UPMC and the University of Pittsburgh School of Medicine that will published in Science and are available online today through the Science Express website.

4 Jun 2010

Detailed analysis of epigenetics of Wilms tumor reveals similarities to stem cells

A detailed analysis of the epigenetics - factors controlling when and in what tissues genes are expressed - of Wilms tumor reveals striking similarities to stem cells normally found in fetal kidneys. These findings by Massachusetts General Hospital Cancer Center researchers have revealed new cellular pathways that are critical for Wilms tumor development and may also apply to other pediatric cancers.

4 Jun 2010

Discovery reveals a new approach to target cancer

Researchers at the University of Pittsburgh Cancer Institute (UPCI) and the School of Medicine have discovered that inhibiting a key molecule in a DNA repair pathway could provide the means to make cancer cells more sensitive to radiation therapy while protecting healthy cells.

3 Jun 2010

U-M researchers one step closer to discovering why certain diseases affect specific organs

Why do some diseases affect only specific organs, leaving others invulnerable? Researchers from the University of Michigan have found neural tissue contains imbalanced levels of proteins, which may explain the brain's susceptibility to a debilitating childhood movement disorder.

3 Jun 2010

Research explains brain's susceptibility to dystonia

3 Jun 2010

Asuragen obtains license to integrate BRAF V600E mutation sequence into its molecular diagnostic products

Asuragen, Inc., a leader in molecular diagnostics and RNA-based pharmacogenomics services, announced today that it has obtained a non-exclusive license to incorporate the BRAF V600E mutation sequence into Asuragen's molecular diagnostic products. The license was obtained from Johns Hopkins University and includes the use of the BRAF V600E mutation as a component of diagnostic test kits and for use in Asuragen's CLIA laboratory for clinical research and patient testing.

2 Jun 2010

New research project to discover origin of myelodysplasia

The University of Navarra, together with the University of Oxford and three other European centres, are taking part in a project to discover the origin of myelodysplasia, an ailment with a predisposition to develop into leukaemia. In the work, patients from 19 hospitals in the north of Spain - including the University Hospital of Navarra - were analysed, as well as from England, Italy, Sweden and Germany.

2 Jun 2010

Texas A&M uses pGAP and IBM supercomputing technology to boost tuberculosis research

IBM today announced that Texas A&M University used IBM supercomputing technology to carry out potentially life-saving tuberculosis research at a rate more than four times faster than was previously possible.

2 Jun 2010

Study sheds light on molecular mechanisms of genital and urinary tract abnormalities

Scientists have learned how a gene widely known for precisely positioning and sculpting various organs also controls the speed of cell division, a finding that could be useful for understanding the explosive growth of cancer cells or why increasing numbers of children are being born with genital and urinary tract malformations.

2 Jun 2010

New model reveals molecular basis of multiple hereditary exostoses

Children born with multiple hereditary exostoses (MHE) suffer from abnormal growths on their bones. These bony protrusions stunt their growth and can cause pain and disfigurement.

2 Jun 2010

Research team confirms gene mutation associated with serious forms of leukaemia

1 Jun 2010

MediSapiens completes $1M seed round investment for personalized cancer medicine software

MediSapiens, world's first software company for personalized cancer medicine in oncology clinics and drug development, completed $ 1 million (EUR 0.8 million) seed round investment from Veraventure, ETFIII advised by Eqvitec Partners, VTT Ventures and Lifeline Ventures.

1 Jun 2010

Commonalities between flies and humans make valuable new model for galactosemia

Galactosemia is a metabolic disease resulting from an inherited defect that prevents the proper metabolism of galactose, a sugar commonly found in dairy products, like milk. Exposure of affected people to galactose, can damage most of their organ systems and can be fatal. The ability to study the disease is limited by a lack of animal models.

1 Jun 2010

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes

An international group of researchers has identified the genetic cause of an inherited condition that causes severe foetal abnormalities.

31 May 2010

RNA viruses hijack cellular enzyme to create viral replication factories on cell membranes

Nihal Altan-Bonnet, assistant professor of cell biology, Rutgers University in Newark, and her research team have made a significant new discovery about RNA viruses and how they replicate themselves.

29 May 2010

Women who undergo bilateral oophorectomy tend to have smaller tumors

More than half a million women in the United States undergo a hysterectomy each year and approximately half of those surgeries include removal of the ovaries. Researchers know that removing a woman's ovaries is associated with a reduction in the risk of developing breast cancer, but it has not been clear whether those cancers that do arise in these women differ from breast cancers in the general population.

29 May 2010

Circumstantial evidence suggests first identified Alzheimer disease patient carried N141I presenilin-2 mutation

Writing the latest pages of an anthropological mystery, scientists propose in this month's Archives of Neurology that it is highly possible that Auguste Deter, the first identified Alzheimer disease patient, carried the N141I presenilin-2 mutation—the same one as in present-day U.S. families descended from German emigrants who settled near the river Volga in Russia.

29 May 2010

Researchers see plectasin as promising lead compound for new antibiotics

An active compound from fungi and lower animals may well be suitable as an effective weapon against dangerous bacteria. We're talking about plectasin, a small protein molecule that can even destroy highly resistant bacteria . Researchers at the Universities of Bonn, Utrecht, Aalborg and of the Danish company Novozymes AS have shed light on how the substance does this.

28 May 2010

Research finding could lead to first-ever target for drug therapy for lymphedema

A genetic mutation for inherited lymphedema associated with lymphatic function has been discovered that could help create new treatments for the condition, say researchers at the University of Pittsburgh Graduate School of Public Health. Their findings are reported in the June issue of the American Journal of Human Genetics.

28 May 2010

Roche launches GS Junior System benchtop DNA sequencing platform for life science research

Roche, announced today the global launch of the GS Junior System, the company's new benchtop next-generation DNA sequencing platform for life science research. The GS Junior System, developed by 454 Life Sciences, a Roche company, provides an integrated sequencing and bioinformatics solution, all in a size that is no bigger than a typical desktop laser printer.

From Roche Sequencing and Life Science 28 May 2010

Mutation News and Research

Anti-seizure drug can be used to treat AT deficiency: Pitt researchers

Detailed analysis of epigenetics of Wilms tumor reveals similarities to stem cells

Discovery reveals a new approach to target cancer

U-M researchers one step closer to discovering why certain diseases affect specific organs

Research explains brain's susceptibility to dystonia

Asuragen obtains license to integrate BRAF V600E mutation sequence into its molecular diagnostic products

New research project to discover origin of myelodysplasia

Texas A&M uses pGAP and IBM supercomputing technology to boost tuberculosis research

Study sheds light on molecular mechanisms of genital and urinary tract abnormalities

New model reveals molecular basis of multiple hereditary exostoses

Research team confirms gene mutation associated with serious forms of leukaemia

MediSapiens completes $1M seed round investment for personalized cancer medicine software

Commonalities between flies and humans make valuable new model for galactosemia

Researchers identify gene responsible for Meckel-Gruber and Joubert syndromes

RNA viruses hijack cellular enzyme to create viral replication factories on cell membranes

Women who undergo bilateral oophorectomy tend to have smaller tumors

Circumstantial evidence suggests first identified Alzheimer disease patient carried N141I presenilin-2 mutation

Researchers see plectasin as promising lead compound for new antibiotics

Research finding could lead to first-ever target for drug therapy for lymphedema

Roche launches GS Junior System benchtop DNA sequencing platform for life science research

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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