期刊
FRONTIERS IN NEUROLOGY
卷 8, 期 -, 页码 -出版社
FRONTIERS MEDIA SA
DOI: 10.3389/fneur.2017.00009
关键词
biobank; rare disease; dystonia; genes; Euro-dystonia
资金
- European Social Fund
- Ministry of Science Research
- Arts Baden-Wurttemberg [31-7635.41/10/1]
- European Cooperation in Science and Technology (COST) Action European network for the study of dystonia syndromes [BM1101]
- Deutsche Forschungsgemeinschaft (DFG) [GA 402/23-1, LO 2046/2-1]
Dystonia belongs to a group of rare diseases (RDs) characterized by etiologic heterogeneity, affection often in childhood, severe and variable clinical manifestation. The burden of this disease is aggravated by the lack of effective and specific treatment. In the field of dystonia as in other RDs the number of available biospecimens is, in general, limited. Here, we report a new approach to collect clinical and genetic data in biospecimens maintained collaboratively by researchers and their associated institutions in a-decentralized system. Allowing researchers to have access to significant numbers of samples and corresponding clinical data, biobanking in dystonia might not only provide a powerful tool in the identification of disease genes but also the classification of variants detected in known genes with respect to their clinical relevance. Growing data in genetics due to the technical progress demand for well-annotated and well-managed biobanks, which in near future hold even the potential for biomarker research and generating medical treatment based on clinical and genetic data currently summarized as personalized medicine.
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