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Bonn Neuroscientists Participating in International Initiative for Study of Rare Diseases

Scientists from the German Center for Neurodegenerative Diseases (DZNE) are participating in an international research project on the causes of rare degenerative brain and muscle disorders.

Over the next five years, the DNZE Bonn site will receive 470,000 euros for the effort. The project, entitled "NEUROMICS: Integrated European Project on Omics Research of Rare Neuromuscular and Neurodegenerative Diseases," is being funded under the EU's Seventh Framework Programme for Research.

The partners in the effort hail from Europe, Australia, Canada and the United States.

"Such a concerted effort on this scale is unprecedented," explains Prof. Thomas Klockgether, Director of Clinical Research at the DZNE. Relevant work in Bonn will focus on patients and healthy people with increased risks of disease. "We expect the work to yield new findings on the causes of such diseases and to provide impetus for diagnosis and therapy," notes Klockgether.

NEUROMICS is focused on a range of brain and movement disorders that are classified as "rare." That classification notwithstanding, in Europe alone the group of those affected – with symptoms including paralysis, muscle tremors, memory loss and dementia – amounts to more than half a million people. To date, only a limited range of therapies is available for easing these rare "neurodegenerative" and "neuromuscular" disorders. And little research has been conducted into the causes of such disorders. "Fortunately, the various disorders overlap in many areas, and virtually the same methods are always used to study them," Klockgether explains. "It thus makes a great deal of sense to tackle these diseases in the context of a single project."

A disease is considered "rare" when it affects fewer than five out of every ten thousand people. It is estimated that there are 6,000 to 8,000 such diseases. NEUROMICS is focusing on a total of ten of them: diseases such as Chorea Huntington, which involves motor and mental disorders, and the group of muscular dystrophies, which lead to muscle atrophy. "Several factors led to this selection," Klockgether reveals. "On the one hand, the diseases needed to be representative, i.e. to have a certain prevalence. On the other hand, the studies involved are only possible on the basis of long experience and a certain type of infrastructure, which is only available for certain diseases." The potential for including existing groups of patients within the studies is of central importance. "A relevant group of people has to be available. It can't simply be built on an ad hoc basis," emphasizes Klockgether.
The emphasis in Bonn: movement disorders

In NEUROMICS, DZNE researchers will be contributing expertise especially in the area of "ataxia". Ataxia sufferers have reduced muscle control, and they are prone to balance loss, incoordination and speech disorders. Such impairments are triggered by brain and spinal damage that can result from many different types of diseases. Klockgether, who is also head of the University of Bonn's Center for Rare Diseases, and his team are currently treating several hundred such patients.

One aspect of NEUROMICS includes studying persons who, while showing no symptoms, have an increased risk of disease as a result of their genetic disposition. "Such an increased risk may be found in close relatives of patients," explains Klockgether. "We are thus hoping that relatives of our patients will agree to take part in the studies."

Diversity of methods

Neurological disorders develop over long periods of time. Therefore noticeable findings can be made years before a disease makes an obvious appearance, Klockgether explains. "We are thus planning to study healthy persons with an increased risk of disease as comprehensively as possible." To carry out those plans, the researchers in Bonn will use a variety of different procedures, including magnetic resonance imaging (MRI) – which provides detailed views of the brain's interior – and tests of motor and cognitive skills.

In addition, blood samples will be taken from the persons being studied in Bonn and then analyzed by project partners, in the framework of the international cooperation for the effort. Those studies will make use of state-of-the-art technologies for gene and protein analysis. Such technologies are collectively referred to as "omics technologies" – as is reflected in the project name, NEUROMICS.
The technologies are expected to help identify "biomarkers". Biomarkers are indicators - found in blood tests results, genomic analysis or MRI scans (for example) - that can identify a disease before the first symptoms appear. Needless to say, biomarkers play a highly significant role in early detection.

Klockgether and his colleagues also plan to study underlying causes: "A number of these rare diseases are known to be inheritable," he notes. "At the same time, we are not aware of all of the genes involved in such inheritance. The specific objectives of NEUROMICS include finding such genes and thereby improving our understanding of the molecular triggers behind these diseases. This work may produce new approaches for therapies."

For further information:
The German Center for Neurodegenerative Diseases (DZNE) studies the causes of diseases of the nervous system and develops strategies for relevant prevention, therapy and care. An institution within the Helmholtz Association of German Research Centres, it has sites in Berlin, Bonn, Dresden, Göttingen, Magdeburg, Munich, Rostock/Greifswald, Tübingen and Witten. The DZNE cooperates closely with universities, their clinics and other research facilities. Website:

Dr. Marcus Neitzert | idw
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