CELL LINE AND DNA BANK OF PAEDIATRIC MOVEMENT DISORDERS

The main aim of the "Cell lines and DNA bank of paediatric movement disorders" is to provide a disease-based bank for the study of paediatric movement disorders (PMD). Childhood onset MD has not received the same degree of focused attention as the more common adult onset MD mainly because the recognition of the type of the abnormal movement is not easy in childhood, especially during the first years of life. The PMD bank was created in 2002 as requirement and result of the routine activity of the diagnostic laboratory at the Bicocca Laboratories of INCB. Since then, it has collected, prepared and stored more than 2000 DNA and cultured fibroblasts in the best technical and ethical possible conditions. The bank activity has received the ISO 9001 certification in 2006. The PMD bank has become a partner of the European network of biobanks (www.eurobiobank.org) since 2008. The bank is important either for the material that has a precise diagnosis (at DNA level) for phenotype-genotype correlation as well as for studies on pathogenic mechanisms of diseases, either for the material that has no precise diagnosis. Whenever a new gene responsible for a movement disorder is found, it is possible to retrieve a sample and analyse it for detection of possible defects in the newly discovered gene. For these reasons, the PMD bank can offer services to validate molecular tests, for association studies, for population studies, to identify new genes etc. The final goal of the PMD bank is to facilitate research and discovery in the field of genetic movement disorders by providing high quality human biological material and accurate clinical information to the scientific community in accordance with the highest ethical standards.