Musician’s dystonia (MD) is a type of focal task-specific dystonia (FTSD) that presents when a musician is playing his instrument and occurs in 1-8% of professional musicians. A positive family history in about 25% of focal dystonia patients suggests a hereditary component but no genetic cause has yet been identified. So far, we have collected 300 clinically well-characterized patients with MD, a quarter of whom have a positive family history for FTSD. Early next year, we will have recruited another 300 MD patients that are currently followed at the Hanover University of Music and Drama. In recent years, genome-wide association (GWA) studies have elucidated the genetic causes for several complex disorders. No GWA study has been published to date for dystonia. To identify genetic causes of MD, we will undertake a GWA study in 400 MD patients using the Affymetrix Human SNP Array 6.0. By this, we will have enough power to detect effects with an odds ratio of >2.0. In a replication study, significantly associated variants will be investigated in another 200 MD as well as 200 other FTSD patients. To further evaluate the results, we will perform fine-mapping, test for segregation within families, and sequence candidate genes. Genotype data will be made publicly available for meta-analyses. Elucidating the genetic causes of MD will improve our understanding of this form of dystonia and may provide clues to the pathophysiology and therapeutic targets of dystonia in general.

• define successful treatment strategies of German neonatal intensive care units with regard to long term outcome (benchmarking aspect).
• identify genetic and clinical risk factors contributing to adverse short and long term outcomes of VLBW-infants (aetiology and genetic aspect).
• promote randomized controlled trials in preterm infants and delineate their long-term consequences (clinical aspect).

Multiple sclerosis (MS) is a highly heterogeneous disease with respect to pathology, treatment response and particularly disease progression. While some patients may develop severe disability within few years, others may never experience significant impairment. Recently, several potent therapies have been developed, which seem to impact on progression of disease when administered early. Unfortunately, the most effective drugs also have a more serious adverse profile, and may cause life threatening side effects. To overcome this dilemma, biomarkers for early diagnosis, prediction of progression and treatment response need to be developed to facilitate individualized treatment and faster development of new therapies. Untangling the different aspects of heterogeneity by identifying reliable biomarkers to phenotype the individual MS patient will require a joint effort of many centers to establish a Germany-wide network for biomarker discovery. A platform will be established that involves a prospective cohort study linked to well-defined biobanking and centralized genomic, transcriptomic and proteomic efforts. Facilitated by core projects addressing the areas of “antibody biomarkers”, “therapy response markers”, “MS heterogeneity”, “MRI standardization” and “biosignal analysis” the platform will develop and provide a rich source also for preclinical and health services research. This will facilitate rapid translation of new findings across the platforms, suited to improve diagnosis and individualized treatment of MS in daily practice.

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