Mutation News and Research

RSS

Gene discovery could help answer basic questions of upright walking

What are the genes implicated in upright walking of humans? The discovery of four families in which some members only walk on all fours (quadrupedality) may help us understand how humans, unlike other primates, are able to walk for long periods on only two legs, a scientist will tell the annual conference of the European Society of Human Genetics tomorrow (Monday 2 June).

1 Jun 2008

Researchers pinpoint gene mutations responsible for 10 percent of non-familial cases of schizophrenia

Scans of the genome of patients with schizophrenia have revealed rare spontaneous copy number mutations that account for at least 10 percent of the non-familial cases of the disease.

1 Jun 2008

Tumor suppressor genes speed up and slow down aging in engineered mouse

Mayo Clinic researchers have developed an animal model that can test the function of two prominent tumor suppressor genes, p16 and p19, in the aging process. Scientists knew that both these genes were expressed at increased levels as humans and mice age, but their role in the aging process was not clear. Findings by the Mayo team show that p16 provides gas to accelerate cellular aging, while p19 stops that process.

1 Jun 2008

New insight into the genetics of Lou Gehrig's disease

An upcoming paper from Drs. Hidenori Ichijo and Hideki Nishitoh (The University of Tokyo) and colleagues lends new and valuable insight into the genetics of ALS.

1 Jun 2008

Spontaneous mutations widespread in non-familial schizophrenia

People with schizophrenia from families with no history of the illness were found to harbor eight times more spontaneous mutations - most in pathways affecting brain development - than healthy controls, in a study supported in part the National Institutes of Health?s (NIH) National Institute of Mental Health (NIMH). By contrast, no spontaneous mutations were found in people with schizophrenia who had family histories of the illness.

30 May 2008

Timer genes control brain size

Experiments using fruit flies have helped a team at the MRC National Institute for Medical Research to identify genes that control how large the developing brain becomes.

29 May 2008

Avoiding spleen removal for Cooley's anemia sufferers

Researchers from Weill Cornell Medical College may have discovered the precise role of a gene in one of the world's most common blood disorders, beta-thalassemia, commonly known as Cooley's anemia. Along with sickle-cell anemia, Cooley's anemia is the most commonly inherited disease in the world, affecting many people of Mediterranean descent, and 20 out of every 100,000 African-Americans. The World Health Organization estimates that between 50,000-100,000 children are born with the disease each year.

27 May 2008

Warning about the danger of yet another bird flu virus

Scientists in the United States have identified a second H strain of bird flu that could cause a pandemic, they say the H5N1 strain of bird flu currently circulating the globe is not the only cause for concern.

27 May 2008

New treatments for viral and other diseases by blocking genes

The elusive goal of developing effective treatments for viral diseases such as AIDS and influenza has been brought closer by dramatic progress in the ability to interfere with viral genetic machinery. The stage was set for a coordinated European effort to accelerate research and stimulate development of new treatments against viral diseases at a recent research conference organised by the European Science Foundation (ESF).

26 May 2008

Alpha1-antitrypsin deficiency associated with increased risk of lung cancer

Carriers of a common genetic disorder previously linked to lung disease may have a 70-percent to 100-percent increased risk of lung cancer, according to a report in the May 26 issue of Archives of Internal Medicine

26 May 2008

Researchers find multiple cancer genes cooperate to cause malignant cell transformation

Pinpointing new targets for cancer treatments is as difficult as finding a needle in a haystack, yet a University of Rochester team has discovered an entire novel class of genes they believe will lead to a greater understanding of cancer cell function and the next generation of effective and less harmful therapies for patients.

26 May 2008

Intracellular antibody mops up mutant protein in Huntington's disease model

Scientists have created a tool for mopping up the clumps of mutant protein that drive neurodegeneration in Huntington's disease. Emory University researchers engineered a virus to make an intracellular antibody or "intrabody" against huntingtin, the protein whose mutant forms poison the brain cells of people with Huntington's.

26 May 2008

Concern over mystery of Bangladeshi baby with bird flu

A case of bird flu in a young child in Bangladesh has raised concern. According to the Bangladeshi health authorities a 16-month-old boy has been confirmed as the country's first human case of the H5N1 strain of bird flu.

25 May 2008

An alternative strategy for HIV vaccine research

Today, Advanced BioScience Laboratories, Inc. (ABL) and the University of Massachusetts Medical School (UMMS) report that their unique HIV vaccine formulation was effective in eliciting strong and balanced immune responses in healthy human volunteers.

22 May 2008

Research shows protecting p53 from degradation also defends metastasis-promoter

Efforts to protect the tumor-suppressor p53 could just as easily shelter a mutant version of the protein, causing cancer cells to thrive and spread rather than die, according to research by scientists at The University of Texas M. D. Anderson Cancer Center reported in the current issue of the journal Genes and Development.

22 May 2008

Boost for cancer research in Leicestershire

A new approach to pain relief, investigation of a gene that triggers colorectal cancer and the prevention, early diagnosis and treatment of ovarian cancer are three research projects at the University of Leicester, which are to benefit from funding from the Leicestershire and Rutland charity Hope Against Cancer.

21 May 2008

Targeted therapy can improve outcomes for lung tumors

The first U.S. clinical trial using genetic screening to identify lung tumors likely to respond to targeted therapies supports the use of those drugs as first-line treatment rather than after standard chemotherapy has failed.

20 May 2008

Ideal treatment for potentially fatal heart condition changes with age

Doctors now make more informed decisions on how to treat an electrical disorder of the heart - be it with drugs, an implanted device or nothing - thanks to a series of decades-long, Rochester-based studies.

20 May 2008

Government funds Rochester heart rhythm disorder research into third decade

A team of cardiologists at the University of Rochester Medical Center has won a four-year, $2.3 million grant from the National Institutes of Health (NIH) to continue its study of a cardiac condition that places teens at risk for sudden death. With the latest award, the team will have received continuous NIH funding for 23 years - one of the longest, continuous, investigator-initiated research projects at the University of Rochester.

20 May 2008

Gene mutations in mice mimic human-like sleep disorder

Mutations in two genes that control electrical excitability in a portion of the brain involved in sleep create a human-like insomnia disorder in mice, UT Southwestern Medical Center researchers have found. The findings may help scientists better understand the disorder and provide an animal model for developing treatments.

20 May 2008