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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

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

Mutation News and Research

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

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

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