The search for better treatments for HD requires a lot of effort by researchers across the globe. Time is of the essence: the ideal time for a treatment for HD is yesterday. Data produced by all these researchers need to be made available sooner rather than later, so that others can build on what is already known. PloS is a new journal launched to speed up the process of scientific discovery in HD.

The traditional way to publish new findings is for researchers to send data with a ‘story’ to a scientific journal. A panel of experts then reviews that story, to judge whether the data and story are solid, and also whether the story is important enough to be interesting to the journal’s audience. This process is known as ‘peer review’.

This approach has advantages: it ensures that what is published is scientifically sound. Once published, articles can be retrieved via the internet sites like PubMed, and used by other scientists to guide and advance their own research.

However, there are several drawbacks, too. Firstly, the time between doing the research and the story being published can be very long. Sometimes the story has to be offered to several journals, one after the other, before it is eventually published. Several years can pass like this.

Secondly, most journals survive by selling copies, so they have to rate the importance of each story. Anything that might not be interesting to that journal’s audience is likely to be rejected, even if the story is scientifically sound.

That introduces bias to what’s available in the scientific literature. It favours exciting stories, but makes it difficult to publish solid, well-conducted scientific research if the results are less glamorous – for instance, if they show that a particular approach, idea or experiment has not helped. These are known as ‘negative results’.

Another problem is that a complete scientific ‘story’ might take five or ten years to research from start to finish. Along the way, interesting data might be produced, but because they don’t tell a complete story, they are unlikely to be published and seen by other researchers.

“Negative data”, or data that don’t make a complete story, can still be really useful to other researchers. For science to make progress, knowing what doesn’t work can be as useful as knowing what does.

Imagine ten researchers in different places, working on similar scientific projects, that could have been shown to be pointless already, if someone had published a single negative result. All that effort, time and money could have been put to much better use.

A new platform for publishing was launched in September 2010, aiming to make HD research more efficient by publishing the results that would otherwise never be seen, and shortening the time it takes to get data published.

This platform is called Public Library of Science (PloS) Current Huntington Disease and is supported by the CHDI Foundation.

New research sheds light on common pathogenic mechanisms shared by Huntington's disease (HD) and HD-like disorders. The study, published by Cell Press in the May 12, 2011, issue of the journal Neuron, uses a new transgenic mouse model for an HD-like disorder to unravel complex molecular events that drive disease pathology.

Read more about this research.

WORCESTER, Mass. – A single change to even one of the thousands of DNA codes that make up each gene in the human genome can result in severe diseases such as cancer, cystic fibrosis, muscular dystrophy or Huntington's Disease. A similarly minor change in the DNA of a virus or bacteria can give rise to drug resistant strains that are difficult for physicians to treat with standard drug therapies. For these reasons, scientists have long sought ways to study the effects genetic mutations can have on an organism but have been hampered in these efforts by an inability to easily and efficiently produce and analyze the thousands of potential changes possible in even one small gene.

A new study by scientists at the University of Massachusetts Medical School, published in Early Edition of the Proceedings of the National Academy of Sciences online on April 4, describes a novel technique to produce all potential individual mutations and using deep sequencing technology simultaneously analyze each change's impact on the cell.

More information on the EurekAlert! website.

In Huntington's disease, the mutant protein known as huntingtin leads to the degeneration of a part of the brain known as the basal ganglia, causing the motor disturbances that represent one of the most defining features of the fatal disease. But a new study reported in the April issue of Cell Metabolism, a Cell Press publication, shows that the mutant protein also is responsible for metabolic imbalances in the hypothalamus, a brain region that plays an important role in appetite control.

"This helps to explain metabolic changes and increases in appetite that have been observed in people at the early stages of disease," even before any motor symptoms appear, said Åsa Petersén of Lund University in Sweden. "It should encourage us to do more clinical studies. If we really understand the pathways that are affected, it may lead to new targets for intervention."

Read the full story on the EurekAlert! website.