Michele Tagliati, M.D., Division Chief of Movement Disorders at Mount Sinai, and Ron Alterman, M.D., Director of Functional and Restorative Neurosurgery, led the team that evaluated the efficacy of lower frequency DBS in 15 patients with dystonia, a neurological movement disorder that causes the involuntary and sometimes painful contraction and spasm of muscles.

Published in the August issue of Neurology , the journal of the American Academy of Neurology, the findings suggest that the lower frequency will extend the battery life of brain stimulation devices, which are surgically implanted on either side of the chest wall. This means that patients will not require surgery to replace their batteries as often-- which had been as frequent as every two years.

Our overall experience with DBS for dystonia at Mount Sinai is very positive, in particular for patients with primary dystonia, Dr. Tagliati said. We have implanted more than 60 dystonia patients, with improvements ranging from 50% to virtually 100%, in a disease that frequently benefits very little from pharmacological therapy.

According to Dr. Alterman, What's interesting about this study is that we changed only the frequency, not the voltage or pulse widths, so it is a true savings in energy and a very practical and real benefit for our patients.

Dystonia patients (many of whom are children) treated at Mount Sinai and other institutions, will be the celebrated guests at a breakfast and Annual Symposium on Dystonia and Parkinson's Disease on Saturday, October 27, hosted by The Bachmann-Strauss Dystonia & Parkinson Foundation and sponsored by Medtronics and Allergen. This reunion of the most successful dystonia program in the U.S., brings together Mount Sinai's patients and physicians for a day of education and discovery.

Drs. Tagliati and Alterman will present their findings and other recent advances in medical and surgical treatments including DBS. Other topics include gene therapy in Parkinson's disease, and the overlap between Parkinson's and dystonia.

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The conference showed how fundamental breakthroughs can be exploited in tackling disease. One of the most exciting discoveries of recent years is the fact that rods and cones are not the only light receptors in the eye, overturning the long established view. There is also a receptor, called phototropin, that recognises blue light at much lower levels, even operating in some people who are otherwise blind, playing an important role in setting the circadian clock. At the conference, one of the world's leading specialists in chronobiology (study of biologicalrhythms) Russell Foster, explained how mouse models were being used to study this newly discovered blue light receptor. "This has been analysed in mice and he is using the knowledge gained to interact with ophthalmologists (eye disease specialists) and patients," said Sang.

Genes determine individual traits not just through their variations, or alleles, but also through differing levels of expression. Another important field of research discussed at the conference concerned the important role of microRNAs in controlling gene expression. RNAs are normally the intermediate molecules between DNA and their products, proteins, in gene expression. However microRNA is a type of RNA that instead of being involved in protein production, feeds back into the DNA coding process to regulate the expression of other genes. Mutations in the genes coding for the microRNA itself can therefore effect the expression of other genes, with some subtle and occasionally dramatic effects, as Sang pointed out. Given that animals inherit two copies, or alleles, of each gene, mutations are more likely to be effective when one of the copies is already silenced, as happens in the phenomenon known as genomic imprinting. Sang cited the case of sheep, where imprinting of a gene called callipyge leads to increased muscle growth in the hindquarters, which clearly can be a desirable trait in meat production.

All these different strands of research could benefit from being integrated into a common framework to avoid duplication of effort and exploit relevant expertise, according to Sang. "The main value of the workshop was that it brought the more theoretical people together with experimental scientists and opportunities for synergies were identified."

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