Mutation News and Research

RSS

Inherited form of hearing loss stems from gene mutation

Pat Phalin learned she had hearing loss at 30, when she volunteered to give hearing tests at her local school. The pupils heard sounds she could not hear.

31 Jul 2008

Rresearchers explain how previously ignored parts of HIV genome play key role in drug resistance

One of the major reasons that treatment for HIV/AIDS often doesn't work as well as it should is resistance to the drugs involved. Now, scientists at McGill University have revealed how mutations hidden in previously ignored parts of the HIV genome play an important role in the development of drug resistance in AIDS patients. Their study will be published Aug. 8 in the Journal of Biological Chemistry.

31 Jul 2008

Warfarin may prevent liver failure in hepatitis C

The drug warfarin may help prevent liver failure in thousands of people with Hepatitis C, according to new research.

31 Jul 2008

Unusual chromosomal changes increase the risk of schizophrenia

People with schizophrenia have an increased number of unusual chromosomal changes, particularly structural changes that have the potential to alter the function of the genes. These results were published today in the scientific journal Nature.

31 Jul 2008

Sleep gene - search is on!

While scientists and physicians know what happens if you don't get six to eight hours of shut-eye a night, investigators have long been puzzled about what controls the actual need for sleep.

29 Jul 2008

Cell mechanism discovery may lead to new treatments for cystic fibrosis, other inherited diseases

Researchers in Japan and Canada have discovered a key component of the quality control mechanism that operates inside human cells - sometimes too well. The breakthrough has significant implications for the development of new treatments for cystic fibrosis (CF) and some other hereditary diseases, the researchers say. Their results were published July 25 in the journal Science.

29 Jul 2008

Genome sequencing study reveals new genetic typhoid fever signatures

For the first time, next-generation DNA sequencing technologies have been turned on typhoid fever - a disease that kills 600,000 people each year. The results will help to improve diagnosis, tracking of disease spread and could help to design new strategies for vaccination.

27 Jul 2008

Column discusses HIV/AIDS risks for black women

If the popular television series "Sex and the City" "chronicl[ed] the sexually liberated adventures of four black women" instead of white women, "one of the lead characters could credibly have tested positive for" HIV, Johnathon Briggs, director of communications at the AIDS Foundation of Chicago, writes in a Chicago Tribune opinion piece.

23 Jul 2008

No doubt: sun causes melanomas

A leading University of Sydney researcher writes in the prestigious British Medical Journal today that claims that the sun is not the key cause of melanomas are false.

22 Jul 2008

Is staying out of the sun causing us more harm than good?

We are continuously bombarded with messages about the dangers of too much sun and the increased risk of melanoma (the less common and deadliest form of skin cancer), but are these dangers real, or is staying out of the sun causing us more harm than good?

22 Jul 2008

New imaging system from MIT may help understand origins of cancer

MIT biological engineers have developed a new imaging system that allows them to see cells that have undergone a specific mutation.

21 Jul 2008

Suspect protein HMGB1 found to promote DNA repair, prevent cancer

An abundant chromosomal protein that binds to damaged DNA prevents cancer development by enhancing DNA repair, researchers at The University of Texas M. D. Anderson Cancer Center report online this week in the Proceedings of the National Academies of Science.

21 Jul 2008

Viral recombination another way HIV fools the immune system

When individuals infected with HIV become infected with a second strain of the virus, the two viral strains can exchange genetic information, creating a third, recombinant strain of the virus. It is known that the presence of multiple viral strains, called superinfection, frequently leads to a loss of immune control of viral levels.

21 Jul 2008

UK report casts doubt on pandemic response effectiveness

A new report from the UK says far more needs to be done to protect against outbreaks of infectious diseases.

21 Jul 2008

Potentially new biomarkers for Alzheimer's

Every aging baby boomer listens for the footsteps of Alzheimer's, and for good reason: It's estimated that 10 million American boomers will develop the disease. The need to develop preventative strategies, ideally long before Alzheimer's destructive, clinical symptoms appear, is critical.

19 Jul 2008

The aorta is torn apart in Marfan syndrome

A severe complication of the Marfan syndrome is that the aorta may split and be torn apart. The patient can be protected if the syndrome is diagnosed and treated in good time.

17 Jul 2008

$2 million computer will help unravel major medical ailments

A federal grant will allow Johns Hopkins researchers to purchase a powerful $2 million computer that will speed up their efforts to find new ways to diagnose and treat brain disease, heart illnesses, cancer and other medical ailments.

16 Jul 2008

New understanding of fetal hemoglobin regulation in patients with sickle cell disease

Although sickle cell disease is a single-gene disorder, its symptoms are highly variable. In a study published online July 14 by the Proceedings of the National Academy of Sciences, scientists at Children's Hospital Boston and the Dana Farber Cancer Institute (DFCI), in collaboration with the Broad Institute of MIT and Harvard, report five gene variants that could potentially be helpful in predicting sickle cell disease severity, perhaps even leading to better treatment approaches in the future.

15 Jul 2008

"Smothered" genes combine with mutations to yield poor out come in cancer patients

Johns Hopkins Kimmel Cancer Center researchers have identified a set of genes in breast and colon cancers with a deadly combination of traditional mutations and "smothered" gene activity that may result in poor outcomes for patients.

15 Jul 2008

Huntington's disease brain damage linked to overactive immune response in the bloodstream

The damage to brain tissue seen in Huntington's disease may be caused by an overactive immune response in the bloodstream and the brain, according to new findings from two teams of researchers at the University of Washington in Seattle and University College London. The findings will be published online July 14 in the Journal of Experimental Medicine.

14 Jul 2008