Mutation News and Research

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Genetic mutation and cat exposure at birth may increase a child's risk of developing eczema

A gene mutation and cat exposure at birth may increase a child's risk of developing eczema during their first year according to a study published in PLoS Medicine. Researchers led by Professor Hans Bisgaard (University Hospital Gentofte, Copenhagen, Denmark) studied the association between mutations in the filaggrin gene (FLG) and exposure to environmental factors with the development of eczema.

24 Jun 2008

Drug rapamycin reverses mental retardation caused by tuberous sclerosis complex

UCLA researchers discovered that an FDA-approved drug reverses the brain dysfunction inflicted by a genetic disease called tuberous sclerosis complex (TSC). Because half of TSC patients also suffer from autism, the findings offer new hope for addressing learning disorders due to autism. Nature Medicine publishes the findings in its online June 22 edition.

23 Jun 2008

Melanomas "run" in families - CDKN2A gene reveals why

When people know the results of genetic tests confirming they have inherited an increased risk of developing melanoma, they follow skin cancer screening recommendations more proactively-much like those who have already been diagnosed with the potentially deadly disease, according to results of a study completed at the University of Utah's Huntsman Cancer Institute. and published in the June issue of Cancer Epidemiology, Biomarkers & Prevention.

17 Jun 2008

Discovery of mechanisms that direct cholinergic synapse assembly between neurons in vivo

Rapid information processing in the nervous system requires synapses, specialized contact sites between nerve cells and their targets. One particular synapse type, cholinergic, uses the chemical transmitter acetylcholine to communicate between nerve cells. Cholinergic synapses are essential for normal learning and memory, arousal, attention, and all autonomic (involuntary) nervous system functions.

16 Jun 2008

Hong Kong battling with bird flu outbreak

An outbreak of the deadly H5N1 bird flu virus in poultry in Hong Kong food markets has led to the culling of live poultry across the city.

16 Jun 2008

Roche chlamydia test approved in Europe

Roche has announced that its new test for detection of Chlamydia trachomatis has received CE Mark certification, allowing it to be sold for clinical use in the European Union.

15 Jun 2008

Researchers identify biomarkers of early-stage pancreatic cancer in mice and man

A multicenter team of researchers has identified a panel of proteins linked to early development of pancreatic cancer in mice that applies also to early stages of the disease in humans - a breakthrough that brings scientists a significant step closer to developing a blood test to detect the disease early, when cure rates are highest.

10 Jun 2008

Genetic variation linked to earlier onset of Alzheimer's symptoms

Investigators at Washington University School of Medicine in St. Louis have identified a genetic variation associated with an earlier age of onset in Alzheimer's disease.

9 Jun 2008

Scientists identify a key regulator of DNA mutations

As a general rule, your DNA is not something you want rearranged. But there are exceptions - especially when it comes to fighting infections. Since the number of microbes in the world far surpasses the amount of human DNA dedicated to combat them, specialized cells in the immune system have adopted an ingenious, if potentially disastrous, strategy for making antibodies. These cells, called B lymphocytes, intentionally mutate their own DNA to ward off invaders they have never seen before.

9 Jun 2008

Indonesia criticised over change in bird flu reporting policy

A decision by authorities in Indonesia to restrict the reporting of bird flu cases in humans to every six months, has been condemned as irresponsible.

9 Jun 2008

Complex synapses drove brain evolution

One of the great scientific challenges is to understand the design principles and origins of the human brain. New research has shed light on the evolutionary origins of the brain and how it evolved into the remarkably complex structure found in humans.

8 Jun 2008

Bird flu hits the UK and the U.S.

Tests currently being conducted will determine just how virulent the H7 strain is and in the meantime a temporary inner control zone of 3km has been set up around the farm along with a 10km outer zone.

5 Jun 2008

Prostate Cancer Foundation 'beefs up' cancer research

The Prostate Cancer Foundation (PCF) has committed more than $19 million in new research funding for scientific investigations focused on discovering new treatments for recurrent prostate cancer. A total of eight programs representing 18 leading research institutions and 36 researchers were selected as part of the foundation's 2008 Challenge Awards. The funded programs will receive the first of three annual payments, ranging between $500,000 and $1.0 million per program, this week.

4 Jun 2008

New molecular mechanism for colorectal cancer

Scientists in Portugal just found a new molecular mechanism behind colorectal cancer in which a mutated and a normal, but over-expressed, gene cooperate and are both needed to create the disease.

4 Jun 2008

By 2024 one in seven women will be diagnosed with breast cancer

Experts in Britain are predicting that by 2024 one in seven women will be diagnosed with breast cancer if there is not an improvement in public health trends.

2 Jun 2008

Personal genomes may lead to personalized vitamin supplements

As the cost of sequencing a single human genome drops rapidly, with one company predicting a price of $100 per person in five years, soon the only reason not to look at your "personal genome" will be fear of what bad news lies in your genes.

2 Jun 2008

Chronic inflammation of the intestine or stomach damages DNA

Chronic inflammation of the intestine or stomach can damage DNA, increasing the risk of cancer, MIT scientists have confirmed.

2 Jun 2008

New approach to treating vision loss caused by type 1 Usher syndrome

A new approach to treating vision loss caused by type 1 Usher syndrome (USH1), the most common condition affecting both sight and hearing, will be unveiled by a scientist at the annual conference of the European Society of Human Genetics tomorrow (Tuesday 3 June).

2 Jun 2008

New genetic mutations involved in inflammatory intestinal disorders discovered

The discovery of new genetic mutations involved in inflammatory intestinal disorders could lead to a better understanding of these common conditions, two scientists told the annual conference of the European Society of Human Genetics today (Monday 2 June).

2 Jun 2008

Potential hypophosphatasia therapy discovered

Researchers at the Burnham Institute for Medical Research, led by José Luis Millán, Ph.D., have demonstrated in mice the first successful use of enzyme replacement therapy to prevent hypophosphatasia (HPP), a primary skeletal disease of genetic origin. This discovery lays the foundation for future clinical trials for HPP patients.

1 Jun 2008