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Disorder in degradation of proteins and other macromolecules in cells leads to serious diseases

The degradation of proteins and other macromolecules in cells is vital to survival. Disruption of this process can result in serious disease. The research group of Professor Thomas Jentsch (Leibniz Institute for Molecular Pharmacology, FMP/ Max Delbr-ck Center for Molecular Medicine, MDC, Berlin-Buch) has now succeeded in identifying an essential cellular process necessary for the transport and degradation of macromolecules in endosomes and lysosomes, respectively.

16 Jun 2010

ISB, GIND collaborate on whole-genome sequencing to identify drug targets for Huntington's Disease

The Institute for Systems Biology (ISB) of Seattle, WA, is collaborating with the Gladstone Institute of Neurological Disease (GIND) and its Taube-Koret Center for Huntington's Disease Research to use whole-genome sequencing to identify genes and novel drug targets related to the onset and progression of Huntington's disease (HD). The research team, led by GIND associate director and senior investigator Steven Finkbeiner, MD, PhD, will also use induced pluripotent stem (iPS) cells from patients with HD to screen for drugs that might delay, prevent, or even reverse this devastating condition.

16 Jun 2010

High vitamin B levels in blood reduce lung cancer risk: Study

Regular intake of Vitamin B complex can reduce the risk of getting lung cancer, researchers have found. The research paper in the Journal of the American Medical Association however emphasized that quitting smoking was the best method to reduce the risk of lung cancer. It is too early to say that vitamin supplements can actually prevent lung cancer say researchers. Lung cancer kills nearly 1.3 million people globally each year according to the World Health Organization and 10 to 15 percent of smokers develop lung cancer.

15 Jun 2010

Alexion's Soliris may benefit patients with thrombotic microangiopathy from uncontrolled complement activation

Researchers reported today that Soliris® (eculizumab), a first-in-class terminal complement inhibitor developed by Alexion Pharmaceuticals, Inc., may provide clinical benefits to patients with thrombotic microangiopathy (TMA) resulting from uncontrolled complement activation. TMA, the formation of blood clots in capillaries and small arteries, can lead to life-threatening damage in multiple organs including kidney failure, thrombocytopenia (abnormally low platelet count) and anemia.

15 Jun 2010

Pediatric oncologist describes current state of science in combating neuroblastoma

Pediatric oncologist John M. Maris, M.D., describes the current state of the science in combating neuroblastoma, the most common solid cancer of early childhood. In his article in the June 10, 2010 New England Journal of Medicine, "Recent Advances in Neuroblastoma," Maris reviews the field's latest research knowledge—much of it based on efforts by Maris and his colleagues at The Children's Hospital of Philadelphia.

15 Jun 2010

CLC-5 protein plays active part in inherited kidney disorder: Scientists

Scientists from the University of Leeds have discovered the mechanisms of a protein known to play an active part in the inherited kidney disorder, Dent's disease. The findings provide a new focus for future therapies for the disease, for which there is currently no cure.

15 Jun 2010

Children born after ART at increased risk of congenital malformation

Couples considering undergoing assisted reproductive technology (ART) treatment should be informed about the increased risk of congenital malformation posed by the use of ART, the annual conference of the European Society of Human Genetics will hear today (Monday). Dr. G-raldine Viot, a clinical geneticist at the Maternit- Port Royal hospital, Paris, France, will say that she believed that most doctors working in ART clinics in France only told couples about such risks if they were asked specific questions.

14 Jun 2010

Research on genetic mutations could lead to accurate diagnosis of USH, says scientist

Usher syndrome, an inherited condition involving both hearing and vision loss, is not a simply recessively inherited disease, a scientist will tell the annual conference of the European Society of Human Genetics today (Saturday). Dr. Hanno Bolz, Associate Medical Director of the Bioscientia Centre for Human Genetics, Ingelheim, Germany, and active in teaching and research at the University Hospital of Cologne, will say that his team's research challenges the traditional view that USH was inherited as a single gene disorder, and shows that it may result from at least two different genetic mutations.

14 Jun 2010

Emerging science of epigenetics offers new insights at crossroads of genes and the environment: Article

An emerging arm of molecular biology is introducing a new interpretation of traditional concepts of human disease, explains an article published today in Nature. According to author Dr. Arturas Petronis at the Centre for Addiction and Mental Health, the emerging science of epigenetics is offering new insights at the crossroads of genes and the environment, or nature and nurture. Dr. Petronis is head of the Krembil Family Epigenetics Laboratory at CAMH and an international expert in the field.

11 Jun 2010

Telomere length can act as stopwatch to predict progression of leukaemia: Research

Scientists have pinpointed key changes to the telomeres in the cells of leukaemia patients which could play a crucial role in the earliest stages of the disease, according to research published online in the journal Blood.

11 Jun 2010

Study demonstrates p53 protein becomes activated during gamete formation

Protein p53 is known as the guardian of the genome since it is basic for the genome's integrity by preventing the accumulation of mutations originating either by the cell's own mechanisms or by the action of external agents.

11 Jun 2010

New methodology may help control influenza

Scientists have uncovered the flu's secret formula for effectively evolving within and between host species: balance. The key lies with the flu's unique replication process, which has evolved to produce enough mutations for the virus to spread and adapt to its host environment, but not so many that unwanted genomic mutations lead to the flu's demise (catastrophic mutagenesis).

11 Jun 2010

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

Mutation News and Research

Disorder in degradation of proteins and other macromolecules in cells leads to serious diseases

ISB, GIND collaborate on whole-genome sequencing to identify drug targets for Huntington's Disease

High vitamin B levels in blood reduce lung cancer risk: Study

Alexion's Soliris may benefit patients with thrombotic microangiopathy from uncontrolled complement activation

Pediatric oncologist describes current state of science in combating neuroblastoma

CLC-5 protein plays active part in inherited kidney disorder: Scientists

Children born after ART at increased risk of congenital malformation

Research on genetic mutations could lead to accurate diagnosis of USH, says scientist

Emerging science of epigenetics offers new insights at crossroads of genes and the environment: Article

Telomere length can act as stopwatch to predict progression of leukaemia: Research

Study demonstrates p53 protein becomes activated during gamete formation

New methodology may help control influenza

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

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