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Research on CBS protein may lead to new drug design for homocystinuria disorder

University of Michigan researchers have solved the structure of a protein that is integral to processes responsible for maintaining a healthy heart and nervous system.

17 Nov 2010

Never-smokers have better chance of surviving head and neck cancer

Patients with head and neck cancer who have never smoked have much better survival rates after radiation therapy than patients with a history of smoking, new research from UC Davis Cancer Center has found.

17 Nov 2010

New animal research identifies factors that may play key roles in depression

New animal research has identified factors, such as the stress response and immune system, that may play important roles in depression. Scientists have also found that the regulation of nerve cell signals influences depression in animals, and that new drug combinations may more effectively treat it. The findings were presented at Neuroscience 2010, the annual meeting of the Society for Neuroscience and the world's largest source of emerging news on brain science and health.

17 Nov 2010

New OncoMap technique can detect point mutation in ovarian cancer

Researchers have shown that point mutations mis-spellings in a single letter of genetic code that drive the onset and growth of cancer cells can be detected successfully in advanced ovarian cancer using a technique called OncoMap. The finding opens the way for personalised medicine in which every patient could have their tumour screened, specific mutations identified, and the appropriate drug chosen to target the mutation and halt the growth of their cancer.

17 Nov 2010

MLL purchases Access Array, EP1 Systems for high-throughput deep-resequencing analysis

Fluidigm Corporation announced today that MLL Munich Leukemia Laboratory has purchased Access Array and EP1 Systems. The Access Array System is being used in combination with Roche's 454 GS FLX and GS Junior sequencing instruments, enabling high-throughput targeted deep-resequencing analyses.

16 Nov 2010

Epizyme announces publication of EZH2 enzyme for lymphoma in PNAS

Epizyme, Inc., a company leading the discovery and development of first-in-class, targeted cancer therapeutics against epigenetic targets, today announced the publication of breakthrough new research in the Proceedings of the National Academy of Sciences (USA). The discovery, centered on the epigenetic enzyme EZH2, illuminates a clear path for the translation of basic science into targeted therapies for the safe and effective treatment of specific forms of human lymphomas.

16 Nov 2010

Researchers develop human cell-based model of Rett syndrome

A groundbreaking study published Friday in the leading scientific journal, Cell, revealed that a team of investigators had successfully generated nerve cells using skin cells from four individuals with Rett syndrome. The study, funded in part by IRSF, was led by Dr. Alysson Muotri at the University of California, San Diego--a leading researcher in the stem cell field.

16 Nov 2010

Children's Hospital pediatric immunologist collaborates with European gene therapy researchers to study WAS syndrome

A pediatric immunologist at The Children's Hospital of Philadelphia collaborated with European gene therapy researchers who achieved marked clinical improvements in two young children with Wiskott-Aldrich syndrome, a very rare but often severe immunodeficiency disorder.

16 Nov 2010

OtoSCOPE method offers single-run genetic testing for hearing loss

Pinpointing the exact genetic cause of inherited deafness has always involved sequencing one gene at a time, a process that can take up to a year and cost roughly $1,000 per gene. It would cost around $75,000 to test all known deafness causing genes using this approach. Now University of Iowa researchers working with colleagues at Baylor College of Medicine have developed a test that can screen all of the genes known to cause deafness in a single run, in one to three months and for about $2,000.

16 Nov 2010

Fisetin slows onset of motor problems, delays death in three models of Huntington's disease: Study

Fisetin, a naturally occurring compound found in strawberries and other fruits and vegetables, slows the onset of motor problems and delays death in three models of Huntington's disease, according to researchers at the Salk Institute for Biological Studies. The study, published in the online edition of Human Molecular Genetics, sets the stage for further investigations into fisetin's neuroprotective properties in Huntington's and other neurodegenerative conditions.

16 Nov 2010

New investigational drug is well tolerated in children with nmCF

PTC Therapeutics, Inc. today announced the publication of data from a Phase 2a clinical trial of ataluren in children with nonsense mutation cystic fibrosis (nmCF) in the American Journal of Respiratory and Critical Care Medicine.

15 Nov 2010

PGxHealth presents results from studies using FAMILION genetic testing at 2010 AHA

Clinical Data, Inc., today announced that results of studies using its FAMILION® genetic testing were presented at the 2010 American Heart Association (AHA) meeting. PGxHealth, a division of Clinical Data, together with its collaborators, presented results from the largest, most comprehensive studies of genetic variation associated with certain cardiac conditions that were revealed using FAMILION testing.

15 Nov 2010

Spontaneous mutations can cause mental retardation

Dutch geneticists affiliated with the Radboud University Nijmegen Medical Centre present as a novel research paradigm that spontaneous mutations are an important cause of mental retardation.

15 Nov 2010

Researchers find link between genetic defect and sticky mucus in cystic fibrosis

An imbalance of salt and water in patients with cystic fibrosis makes their lungs clog up with sticky mucus that is prone to infection. The cause of the offending imbalance is a well-known genetic error, one that blocks the molecular expressway for tiny chloride ions to move across the surface of the lungs.

15 Nov 2010

Transgenomic awarded $1,070,453 grant under Patient Protection and Affordable Care Act

Transgenomic, Inc. today announced that it has been awarded a research and development grant totaling $1,070,453.32 from the U.S. government under HR: 3590 – Patient Protection and Affordable Care Act (the "Act") in immediately available funds. This is among the largest awards for any one company under the Act.

12 Nov 2010

Researchers study Rett neurons in a Petri dish

A collaborative effort between researchers at the Salk Institute for Biological Studies and the University of California, San Diego, successfully used human induced pluripotent stem (iPS) cells derived from patients with Rett syndrome to replicate autism in the lab and study the molecular pathogenesis of the disease.

12 Nov 2010

Scientists create functional neurons to study ASD development

Using induced pluripotent stem cells from patients with Rett syndrome, scientists at the University of California, San Diego School of Medicine have created functional neurons that provide the first human cellular model for studying the development of autism spectrum disorder (ASD) and could be used as a tool for drug screening, diagnosis and personalized treatment.

12 Nov 2010

Research on fruit flies reveal novel human pain gene

While it has become clear in recent years that susceptibility to pain has a strong inherited component, very little is known about actual "pain genes" and how they work. In the November 12th issue of Cell, researchers at Children's Hospital Boston and their collaborators report on a novel human pain gene. People with minor variations in this gene showed clear differences in susceptibility to acute heat pain and chronic back pain.

12 Nov 2010

Research unveils epigenetic function of MECP2 gene tht cause neuropsychiatric disorders

The laboratory of Huda Zoghbi, where the discovery that mutations in the gene MECP2 cause the severe childhood neurological disorder Rett Syndrome was made, has taken yet another step toward unraveling the complex epigenetic functions of this gene, implicated also in cases of autism, bipolar disease and childhood onset schizophrenia. The November 11 issue of Nature reports that removing MECP2 from a small group of neurons that typically make the inhibitory neurotransmitter, GABA, recapitulates many symptoms of Rett as well as numerous neuropsychiatric disorders.

12 Nov 2010

Diabetic drug may retard growth of fluid-filled cysts in PKD: Research

Researchers report that a drug commonly used to treat diabetes may also retard the growth of fluid-filled cysts of the most common genetic disorder, polycystic kidney disease.

12 Nov 2010