Mutation News and Research

RSS

Scientists discover new genetic variants, pave way for early detection of ovarian cancer

An international consortium of scientists has discovered new genetic variants in five regions of the genome that affect the risk of ovarian cancer in the general population, according to two separate studies published today (Sunday), online in Nature Genetics.

20 Sep 2010

APC gene mutation affects DNA methylation in colon cancer: Research

Colon cancer is the second most common cancer in the United States and causes more than 50,000 deaths each year. It has been known for some time that mutations in the APC gene occur in more than 85 percent of all sporadic colon cancers. Now researchers at Huntsman Cancer Institute at the University of Utah demonstrate in a study featured today in Cell the mechanism by which mutation of the APC gene affects a cellular process known as DNA methylation.

18 Sep 2010

Researchers awarded funds to assess effects of omega-3 fatty acids on breast cancer development

Two researchers at Marshall University have been awarded federal funds totaling more than $1 million to assess the effects of omega-3 fatty acids on breast cancer development.

18 Sep 2010

Researchers identify new target for cystic fibrosis

The lab of Kevin Foskett, PhD, the Isaac Ott Professor of Physiology at the University of Pennsylvania School of Medicine, has found a possible new target for fighting cystic fibrosis (CF) that could compensate for the lack of a functioning ion channel in affected CF-related cells. Their finding appears in the Journal of Clinical Investigation.

18 Sep 2010

Researchers discover evolutionary nature of bacteria to spread chronic infectious disease

Researchers from the Center for Genomic Sciences at Allegheny General Hospital (AGH) in Pittsburgh have made a landmark discovery about the evolutionary nature of bacteria in the setting of chronic infectious disease. Reporting today in the journal PLos Pathogens, the AGH team documents for the first time that bacteria engage in a process called horizontal gene transfer to evolve rapidly during the course of a single infection.

18 Sep 2010

Boehringer Ingelheim commences afatinib Phase III clinical trial in advanced breast cancer

Boehringer Ingelheim today announced the initiation of a phase III clinical trial to investigate one of its most advanced oncology pipeline compounds, afatinib, for the treatment of patients with advanced (metastatic) breast cancer. Afatinib is an oral compound (taken as a tablet), which is a next generation, targeted therapy, that irreversibly inhibits both, the epidermal growth factor receptor (EGFR/HER1) and the human epidermal receptor HER2, which are involved in tumour growth and spread.

18 Sep 2010

New genetic analysis technique isolates culprit gene in families with inherited single-gene kidney diseases

A University of Michigan-led research team has identified a gene responsible in some families for a devastating inherited kidney disorder, thanks to a new, faster method of genetic analysis not available even two years ago. The success offers hope that scientists can speed the painstaking search for the genes responsible for many rare diseases and test drugs to treat them.

17 Sep 2010

Simian immunodeficiency virus is at least 32,000 to 75,000 years old

An ancestor of HIV that infects monkeys is thousands of years older than previously thought, suggesting that HIV, which causes AIDS, is not likely to stop killing humans anytime soon, finds a study by University of Arizona and Tulane University researchers.

17 Sep 2010

Researchers decode key DNA in evolution of aging, development and fertility

UC Irvine researchers have deciphered how lowly fruit flies bred to rapidly develop and reproduce actually evolve over time. The findings, reported in the Sept. 15 online issue of Nature, contradict the long-held belief that sexual beings evolve the same way simpler organisms do and could fundamentally alter the direction of genetic research for new pharmaceuticals and other products.

17 Sep 2010

Devil genome sequenced: Hope for endangered Tasmanian Devils

Tasmanian Devil Salem died at age seven but made a difference to her endangered species. Only 50 micrograms of her tissue was taken and processed by Australian genetic scientist Elizabeth Murchison, using new US technology, to produce the first devil genome sequence. As a result, the fight against devil facial tumor disease now has a draft DNA reference map. This was presented at a genetic conference in Hobart yesterday.

16 Sep 2010

Incyte Corporation publishes clinical trial data of INCB18424 drug for myelofibrosis treatment

Incyte Corporation, Results from a Phase I/II study of Incyte's janus kinase (JAK) inhibitor with the investigational name INCB18424 (also known as INCB018424 and INC424) were published today in The New England Journal of Medicine, demonstrating marked and durable clinical benefits in patients with myelofibrosis.

16 Sep 2010

Recommendations for developing novel therapies for hypertrophic cardiomyopathy

An abrupt, fatal heart attack in a young athlete on the playing field is a tragedy destined to repeat itself over and over until more is understood about hypertrophic cardiomyopathy (HCM), a genetic disorder that is the most common cause of sudden death in young people but which affects people of all ages.

16 Sep 2010

Anonymous Funding promotes drug development for Fragile X syndrome treatment

Funding from an anonymous wealthy family has been the secret to progress, at long last, in developing drugs that show promise for helping millions of people worldwide with Fragile X syndrome, the most common genetic cause of autism. That's the topic of a fascinating article in the current issue of Chemical & Engineering News (C&EN), ACS' weekly newsmagazine.

16 Sep 2010

Researchers identify mechanism to reduce pathogenic effect of bacillus bacteria

A European-Asian collaboration of scientists, notably including CNRS, the Institut Pasteur in Paris, the Institut Pasteur Korea in Seoul (IP Korea/Equipe Avenir Inserm and the Université de Toulouse have identified ten virulence genes of the tubercle bacillus. The inactivation of these genes lessens the pathogenic effects of the bacillus.

16 Sep 2010

Wistar Institute scientists publish detailed report on structure, function of Cdc13 domain in protein

Scientists at The Wistar Institute have published the first detailed report on the structure and function of a crucial domain in the protein known as Cdc13, which sustains telomeres by clamping to DNA and recruiting replicating enzymes to the area.

16 Sep 2010

Researchers find clue behind ASD affecting males than females

New research from the Centre for Addiction and Mental Health (CAMH) and The Hospital for Sick Children (SickKids), both in Toronto, Canada provides further clues as to why Autism Spectrum Disorder (ASD) affects four times more males than females. The scientists discovered that males who carry specific alterations of DNA on the sole X-chromosome they carry are at high risk of developing ASD. The research is published in the September 15 issue of Science Translational Medicine.

16 Sep 2010

Aetna supports landmark study on BRCA testing

Testing is available to help identify if a woman is likely to face one of her gender's worst fears: inherited breast and ovarian cancer. But significant questions have been raised among doctors and public health agencies about whether these tests are being offered to the women who can most benefit - consistent with the evidence-based guidelines for this testing - and whether the information learned from testing is being put to best use.

16 Sep 2010

ESMO honors three eminent cancer specialists for their contribution towards medical research

The European Society for Medical Oncology (ESMO) honors three eminent cancer specialists for their contribution to the advancement of medical research. The awards will be presented to Hilary Calvert, Alberto Costa and Bengt Glimelius at the 35th ESMO Congress, to take place from 8-12 October in Milan, Italy.

16 Sep 2010

JAK oral medication produces lasting relief for patients with myelofibrosis: Researchers

An oral medication produces significant and lasting relief for patients with myelofibrosis, a debilitating and lethal bone marrow disorder, researchers at The University of Texas MD Anderson Cancer Center report in the Sept. 16 New England Journal of Medicine.

16 Sep 2010

ABCB4 gene causes bad cholesterol to accumulate in blood: Research

Scientists at the Southwest Foundation for Biomedical Research (SFBR) in San Antonio have found a gene that causes high levels of bad cholesterol to accumulate in the blood as a result of a high-cholesterol diet.

16 Sep 2010

Mutation News and Research

Scientists discover new genetic variants, pave way for early detection of ovarian cancer

APC gene mutation affects DNA methylation in colon cancer: Research

Researchers awarded funds to assess effects of omega-3 fatty acids on breast cancer development

Researchers identify new target for cystic fibrosis

Researchers discover evolutionary nature of bacteria to spread chronic infectious disease

Boehringer Ingelheim commences afatinib Phase III clinical trial in advanced breast cancer

New genetic analysis technique isolates culprit gene in families with inherited single-gene kidney diseases

Simian immunodeficiency virus is at least 32,000 to 75,000 years old

Researchers decode key DNA in evolution of aging, development and fertility

Devil genome sequenced: Hope for endangered Tasmanian Devils

Incyte Corporation publishes clinical trial data of INCB18424 drug for myelofibrosis treatment

Recommendations for developing novel therapies for hypertrophic cardiomyopathy

Anonymous Funding promotes drug development for Fragile X syndrome treatment

Researchers identify mechanism to reduce pathogenic effect of bacillus bacteria

Wistar Institute scientists publish detailed report on structure, function of Cdc13 domain in protein

Researchers find clue behind ASD affecting males than females

Aetna supports landmark study on BRCA testing

ESMO honors three eminent cancer specialists for their contribution towards medical research

JAK oral medication produces lasting relief for patients with myelofibrosis: Researchers

ABCB4 gene causes bad cholesterol to accumulate in blood: 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

Latest News