Mutation News and Research

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Mutation of a gene involved in non-small cell lung cancer linked to drug effectiveness

Mutation of a gene involved in non-small cell lung cancer (NSCLC) increases the likelihood that the drug gefitinib (Iressa™) will show a beneficial response, researchers at the Dana-Farber Cancer Institute, the National Cancer Institute (NCI) - part of the National Institutes of Health - and two other institutions announced today in the online version of Science.

29 Apr 2004

Lou Gehrig’s disease gene discovered

A gene for a rare juvenile-onset form of amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease) has been isolated in families in the United States, Belgium and Austria, the Muscular Dystrophy Association (MDA) announced today.

29 Apr 2004

Researchers have discovered the cause of one form of retinitis pigmentosa, a type of genetically inherited blindness

Saint Louis University researchers have discovered the cause of one form of retinitis pigmentosa, a type of genetically inherited blindness.

28 Apr 2004

A high rate of marriage among deaf individuals can explain the increased frequency of connexin deafness in the United States

A high rate of marriage among deaf individuals can explain the increased frequency of connexin deafness in the United States and may have led to a doubling of its occurrence during the past 200 years, according to a study by hereditary deafness experts at Virginia Commonwealth University.

27 Apr 2004

Oxford researchers find possible new type of antibiotic

Dr Ben Davis in the Department of Chemistry at Oxford University, England and his collaborators have discovered a possible new route to antibiotics.

26 Apr 2004

Discovery shows how single genetic mutation can cause complex disorders

Bardet-Biedl syndrome (BBS), characterized by obesity, learning disabilities and eye and kidney problems, is caused by genetic mutations in the BBS family of genes. Now, researchers who've long studied the condition have discovered that genetic mutations in one of those genes, called BBS4, lead to cell death by disrupting the cells' internal "highway" system.

25 Apr 2004

Nitric oxide, a chemical messenger involved in bodily functions shuts down a protein involved in Parkinson's disease

Johns Hopkins researchers have discovered that nitric oxide, a chemical messenger involved in bodily functions from erection to nerves' communication, also shuts down a protein involved in Parkinson's disease.

23 Apr 2004

Clinical trial of curcumin in people with cystic fibrosis

Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT), the nonprofit drug discovery and development affiliate of the Cystic Fibrosis Foundation, today announced that it is funding a clinical trial of curcumin in people with cystic fibrosis (CF).

22 Apr 2004

Turmeric corrects the cystic fibrosis defect

Scientists at The Hospital for Sick Children (Sick Kids) and Yale University School of Medicine have found that a compound in the spice turmeric corrects the cystic fibrosis defect in mice. This research is reported in the April 23, 2004 issue of the journal Science.

22 Apr 2004

Researchers have discovered a genetic mutation associated with an inherited form of motor neuron disease

Researchers have discovered a genetic mutation associated with an inherited form of motor neuron disease in which symptoms first appear in childhood or young adulthood. The finding is slated for publication in the American Journal of Human Genetics.

20 Apr 2004

Functional genomics provide improved drug discovery

Functional genomics and proteomics have been quite successful in identifying functions of potential therapeutic targets such as encoded proteins.

20 Apr 2004

Poultry litter harbors agents that generate antibiotic multi-resistance

They found that poultry litter – a ubiquitous part of large broiler operations – harbors a vastly larger number of microbial agents that collect and express resistance genes than was previously known.

19 Apr 2004

Researchers find drug that may suppress genetic mutation using a novel screening approach

Researchers at Massachusetts General Hospital have developed a way of identifying promising new drugs that may get around a major challenge in drug discovery.

18 Apr 2004

Lung cancer varies between men and women

Tobacco use in American women rose dramatically during the 20th century, resulting in a 600 percent increase by the year 2003 in the number of women who died of lung cancer. In the same period, the number of lung cancer deaths in men declined.

18 Apr 2004

Extensive gene traffic, the process of genes leaving and arriving on the chromosome

Researchers at the University of Chicago have discovered there is extensive gene “traffic”—the process of genes leaving and arriving on the chromosome—on the mammalian X chromosome. They also have overturned a conventional theory about how genes evolved on the sex chromosome.

16 Apr 2004

Scientists discover gene for Parkinson's disease

UCL scientists have discovered a new gene implicated in the early development of Parkinson's disease. In a study of families with early onset disease, Professor Nick Wood and colleagues at University College London's Institute of Neurology identified a novel gene which produces a malfunctioning protein that could pave the way for new treatments for Parkinson sufferers.

16 Apr 2004

Genetic mutation raises interesting questions about the evolution of the Y chromosome

The names and dates comprising a family tree contain branches that can extend backward centuries in time. People use these diagrams to discover their ancestral origin. Scientists use them to study the genealogical origins of entire species, tracing evolutionary history down to changes in a single gene.

14 Apr 2004

Autism gene discovered

Researchers at Mount Sinai School of Medicine are first to strongly link a specific gene with autism. While earlier studies have found rare genetic mutations in single families, a study published in the April issue of the American Journal of Psychiatry is the first to identify a gene that increases susceptibility to autism in a broad population.

14 Apr 2004

The amount of female smokers rose by 600% in the 20th century

American women who smoke rose dramatically during the 20th century, resulting in a 600 percent increase by the year 2003 in the number of women who died of lung cancer. In the same period, the number of lung cancer deaths in men declined.

14 Apr 2004

Bird flu in humans highlights vulnerability of people to emerging diseases

The occurrence of avian influenza in humans is a reminder of the vulnerability of people to an emerging pandemic, Mayo Clinic researchers warn in the current issue of Mayo Clinic Proceedings.

13 Apr 2004

Mutation News and Research

Mutation of a gene involved in non-small cell lung cancer linked to drug effectiveness

Lou Gehrig’s disease gene discovered

Researchers have discovered the cause of one form of retinitis pigmentosa, a type of genetically inherited blindness

A high rate of marriage among deaf individuals can explain the increased frequency of connexin deafness in the United States

Oxford researchers find possible new type of antibiotic

Discovery shows how single genetic mutation can cause complex disorders

Nitric oxide, a chemical messenger involved in bodily functions shuts down a protein involved in Parkinson's disease

Clinical trial of curcumin in people with cystic fibrosis

Turmeric corrects the cystic fibrosis defect

Researchers have discovered a genetic mutation associated with an inherited form of motor neuron disease

Functional genomics provide improved drug discovery

Poultry litter harbors agents that generate antibiotic multi-resistance

Researchers find drug that may suppress genetic mutation using a novel screening approach

Lung cancer varies between men and women

Extensive gene traffic, the process of genes leaving and arriving on the chromosome

Scientists discover gene for Parkinson's disease

Genetic mutation raises interesting questions about the evolution of the Y chromosome

Autism gene discovered

The amount of female smokers rose by 600% in the 20th century

Bird flu in humans highlights vulnerability of people to emerging diseases

Discover how SciY empowers scientists

Why use light scattering to analyze proteins and viral vectors?

Changing the landscape of R&D to build clinical success from the ground up

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