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Gene's role in immune system may suggest new treatments for childhood asthma

Pediatric researchers have identified a novel gene involved in childhood asthma, in one of the largest gene studies to date of the common respiratory disease. Because the gene, called DENND1B, affects cells and signaling molecules thought to be instrumental in the immune system overreaction that occurs in asthma, the discovery may have singled out an important target for new treatments.

23 Dec 2009

Reduced calories increase human cell lifespan

Going back for a second dessert after your holiday meal might not be the best strategy for living a long, cancer-free life say researchers from the University of Alabama at Birmingham. That's because they've shown exactly how restricted calorie diets-specifically in the form of restricted glucose-help human cells live longer. This discovery, published online in The FASEB Journal (http://www.fasebj.org) could help lead to drugs and treatments that slow human aging and prevent cancer.

23 Dec 2009

NHLBI grant for identifying genetic and epigenetic causes of human congenital heart disease

Researchers at Children's Hospital Boston and Brigham and Women's Hospital have received funding from the National Heart, Lung, and Blood Institute (NHLBI) to support their search for undiscovered gene defects that cause congenital heart disease. The $4.19 million, 6-year grant is part of the Pediatric Cardiac Genomics Consortium (PCGC), which seeks to identify genetic and epigenetic causes of human congenital heart disease, and relate genetic variants present in the congenital heart disease patient population to clinical outcomes.

23 Dec 2009

MSH6 mutation carriers at elevated risk for colorectal, endometrial and lynch syndrome cancers

People carrying the germ-line MSH6 mutation are at high risk by age 80 years for colorectal and endometrial cancers and any cancer associated with Lynch syndrome, according to a new study published online December 22 in the Journal of the National Cancer Institute.

23 Dec 2009

Tel Aviv University's new Genome Analyzer fuels research dreams and tomorrow's cures

To identify the hemophilia mutation that affected Queen Victoria and her European relatives, scientific detectives used a cutting-edge "deep sequencing tool." Able to trace rare genetic disease mutations, the tool can turn a single laboratory into a fertile genetic research center.

22 Dec 2009

CD20 deficiency in humans results in impaired T cell-independent antibody responses

Antibodies directed against the protein CD20, which is expressed by immune cells known as B cells, are used to treat B cell non-Hodgkin lymphoma and rheumatoid arthritis.

22 Dec 2009

Common variations in genes associated with microcephaly may explain differences in brain size

A group of Norwegian and American researchers have shown that common variations in genes associated with microcephaly - a neuro-developmental disorder in which brain size is dramatically reduced - may explain differences in brain size in healthy individuals as well as in patients with neurological and psychiatric disorders.

22 Dec 2009

Discovery suggests how toxin-filtering cells go awry

Researchers from Children's Hospital Boston and Brigham and Women's Hospital have identified an important genetic cause of a devastating kidney disease that is the second leading cause of kidney failure in children, according to The NephCure Foundation.

22 Dec 2009

BUSM researchers discover new gene therapy for treating emphysema patients

Researchers from Boston University School of Medicine (BUSM) have discovered a new gene therapy that may prevent the progression of emphysema. The study, which appears on-line in the Journal of Clinical Investigation, describes a method to express therapeutic genes in lung tissue for a lifetime after only a single treatment.

22 Dec 2009

Scientists identify new therapeutic approach for overcoming emphysema

Individuals with single-gene mutations that mean they have abnormally low levels of the protein alpha-1 antitrypsin are highly susceptible to emphysema, a progressive lung disease that causes severe shortness of breath.

22 Dec 2009

Clarient announces acquisition of Applied Genomics

Clarient, Inc., a premier technology and services resource for pathologists, oncologists and the pharmaceutical industry, today announced that it has acquired privately held, Huntsville, AL-based Applied Genomics, Inc. (AGI) in an all-stock merger valued at up to $17.6 million, if all conditions and milestones set forth in the merger agreement are successfully met.

21 Dec 2009

Investigation of IDH1 gene mutations in brain cancer receives new funds

Agios Pharmaceuticals, the leading biopharmaceutical company focused on discovering and developing novel drugs in the emerging field of cancer metabolism, announced today that it has received funding from Accelerate Brain Cancer Cure (ABC2), a non-profit organization that supports brain cancer research. ABC2’s funding will enable new research investigating IDH1 gene mutations in brain cancer, with the goal of supplementing Agios’s ongoing research into the development of new IDH1 therapeutics and diagnostics.

21 Dec 2009

Researchers determine structures of two enzymes that customize histones

Researchers at Emory University School of Medicine have determined the structures of two enzymes that customize histones, the spool-like proteins around which DNA coils inside the cell.

20 Dec 2009

Possible link between presence of breast cancer genes and infertility discovered

A New York Medical College physician who specializes in restoring or preserving fertility in female cancer patients has discovered a possible link between the presence of breast cancer genes and infertility.

19 Dec 2009

Researchers discover how protein can be controlled and under what circumstances it can go awry

A team of researchers studying the protein that, when defective or absent, causes cystic fibrosis (CF) has made an important discovery about how that protein is normally controlled and under what circumstances it might go awry.

18 Dec 2009

Phase 2 clinical study of STA-9090 in NSCLC initiated

Synta Pharmaceuticals Corp., a biopharmaceutical company focused on discovering, developing, and commercializing small molecule drugs to treat severe medical conditions, today announced that it has initiated a Phase 2 clinical study of STA-9090 in non-small cell lung cancer (NSCLC).

18 Dec 2009

PRPS1 gene associated with DFN2 identified by researchers

A gene associated with a rare form of progressive deafness in males has been identified by an international team of researchers funded by the National Institute on Deafness and Other Communication Disorders.

17 Dec 2009

Next-generation DNA sequencing demonstrates potential in identifying mutations in SCLC

Applied Biosystems, part of Life Technologies Corporation, today announced the publication of a paper in the journal Nature that demonstrates the power of next-generation DNA sequencing used to identify DNA mutations in a small cell lung cancer (SCLC) line and identify the mutational burden associated with tobacco smoking.

17 Dec 2009

New study shows how stem cell activity can contribute to cancer

In a developing animal, stem cells proliferate and differentiate to form the organs needed for life. A new study shows how a crucial step in this process happens and how a reversal of that step contributes to cancer.

17 Dec 2009

Typical smoker acquires one mutation for every 15 cigarettes and all cancers are caused by mutations

Research teams led by the Wellcome Trust Sanger Institute announce the first comprehensive analyses of cancer genomes.

17 Dec 2009

Mutation News and Research

Gene's role in immune system may suggest new treatments for childhood asthma

Reduced calories increase human cell lifespan

NHLBI grant for identifying genetic and epigenetic causes of human congenital heart disease

MSH6 mutation carriers at elevated risk for colorectal, endometrial and lynch syndrome cancers

Tel Aviv University's new Genome Analyzer fuels research dreams and tomorrow's cures

CD20 deficiency in humans results in impaired T cell-independent antibody responses

Common variations in genes associated with microcephaly may explain differences in brain size

Discovery suggests how toxin-filtering cells go awry

BUSM researchers discover new gene therapy for treating emphysema patients

Scientists identify new therapeutic approach for overcoming emphysema

Clarient announces acquisition of Applied Genomics

Investigation of IDH1 gene mutations in brain cancer receives new funds

Researchers determine structures of two enzymes that customize histones

Possible link between presence of breast cancer genes and infertility discovered

Researchers discover how protein can be controlled and under what circumstances it can go awry

Phase 2 clinical study of STA-9090 in NSCLC initiated

PRPS1 gene associated with DFN2 identified by researchers

Next-generation DNA sequencing demonstrates potential in identifying mutations in SCLC

New study shows how stem cell activity can contribute to cancer

Typical smoker acquires one mutation for every 15 cigarettes and all cancers are caused by mutations

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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