Mutation News and Research

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Discovery of new biochemical pathway which controls DNA repair

From the sun's UVA rays to tobacco smoke, our environment is chock-full of DNA-damaging agents that can lead to cancer.

7 Nov 2008

Alteration of a gene causes neuroblastoma

Olivier Delattre's team (Inserm Unit 830 "Genetics and Biology of Cancer") of the Institut Curie reveal in an article in the 16 October issue of Nature that alteration of the ALK gene is closely associated with the most frequent solid extracerebral tumor in children-neuroblastoma. By studying the familial forms of this tumor, the researchers also conclude that ALK is a gene that predisposes to neuroblastoma.

7 Nov 2008

Dalmatian bladder stones caused by gene that regulates uric acid in humans

A gene mutation that causes high levels of uric acid in all Dalmatian dogs and bladder stones in some Dalmatians, has been identified by a team of researchers in the School of Veterinary Medicine at the University of California, Davis.

7 Nov 2008

Australian-led global initiative to improve diagnosis of genetic disorders

An Australian-led global initiative to improve the diagnosis of genetic disorders and reduce errors in the reporting of genetic variations has been published today in the prestigious scientific journal Science.

7 Nov 2008

Scientists sequence genome of a cancer patient

For the first time, scientists have decoded the complete DNA of a cancer patient and traced her disease - acute myelogenous leukemia - to its genetic roots.

6 Nov 2008

Discovery of new target in brain for treating schizophrenia

Research from the University of Pittsburgh could expand the options for controlling schizophrenia by identifying a brain region that responds to more than one type of antipsychotic drug.

6 Nov 2008

Genetic mutation linked to seasonal affective disorder

With the days shortening toward winter, many people will begin to experience the winter blahs.

4 Nov 2008

Biologists identify genes that prevent changes in physical traits due to environmental changes

New York University biologists have identified genes that prevent physical traits from being affected by environmental changes.

4 Nov 2008

Just one mutated SMAD4 allele is enough to cause cancer

Tumour suppressor genes do not necessarily require both alleles to be knocked out before disease phenotypes are expressed.

4 Nov 2008

Research points to new treatment options for infantile hemangioma

A team of researchers led by Harvard School of Dental Medicine (HSDM) Dean for Research Bjorn Olsen has discovered a mechanism for the rapid growth seen in infantile hemangioma, the most common childhood tumor.

31 Oct 2008

Gleevec holds potential as first drug to successfully treat neurofibromatosis

Researchers at the Indiana University School of Medicine report that the anti-cancer drug Gleevec holds out promise to become the first effective treatment for neurofibromatosis, a genetic disease that has resisted treatments until now.

30 Oct 2008

Discovery of mechanism and possible drug treatment for growth of nerve tumors in neurofibromatosis

Researchers studying neurofibromatosis type 1 - a rare disease in which tumors grow within nerves - have found that the tumors are triggered by crosstalk between cells in the nerves and cells in the blood.

30 Oct 2008

Cancer requires support from immune system to develop, researchers report

Tumors that grow around nerves in a rare genetic disease need cooperation from cells from the immune system in order to grow, reports a team of scientists, including researchers from UT Southwestern Medical Center.

30 Oct 2008

Researchers discover how Sonic hedgehog gene controls brain development

University of Pennsylvania School of Medicine researchers have discovered how the expression of the Sonic hedgehog gene is regulated during brain development and how mutations that alter this process cause brain malformations. The results appear online this month in Nature Genetics.

28 Oct 2008

Discovery of new gene responsible for puberty disorders

A new gene responsible for some puberty disorders has been identified by Medical College of Georgia researchers.

27 Oct 2008

Nanoparticles target multiple cancer genes, shrink tumors more effectively

Nanoparticles filled with small interfering RNA (siRNA) molecules targeting two genes that trigger melanoma have shown that they can inhibit the development of melanoma, the most dangerous type of skin cancer.

27 Oct 2008

Universal test for genetic diseases in unborn children in the pipeline

A team of British scientists have developed a ground-breaking new test to screen for genetic diseases in unborn children.

27 Oct 2008

A new role for a critical DNA repair molecule in the immune system

The human immune system is a brilliantly adaptable weapon against foreign invaders. But it all depends on the work of specialized cells called lymphocytes that have made a risky evolutionary gambit to mutate their own DNA.

26 Oct 2008

Gene mutation in worms could further understanding of alcoholism in humans

The work follows a study carried out by Oregon Health and Science University, which suggested a link between a gene mutation in mice and tolerance to alcohol. Researchers at Liverpool have investigated this in worms, looking specifically at the role the gene plays in communication between cells in the nervous system.

22 Oct 2008

CytoDyn files new IND for Cytolin

CytoDyn, Inc. has filed a new IND for a study to reconfirm dose ranging and to "prove the principle" with a randomized, double-blind placebo controlled study of Cytolin, the Company's first-in-class drug for treating HIV/AIDS. This comes 13 years after the first IND was issued for the drug.

22 Oct 2008