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Reginald E. Bittner/Wolfgang M. Schmidt

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Research Focus
The Neuromuscular Research Department (NMRD) is dedicated to basic and applied research in the fields of neuromuscular and neurodegenerative diseases (NMDs).
NMDs comprise a clinically and genetically heterogeneous group of inherited disorders leading to progressive muscle weakness and frequently premature death, because of the lack of effective therapies. Frequently, other organs like the heart, the brain and the eyes are affected. The clinical onset ranges from severe, congenital NMDs to juvenile and adult forms. Although NMDs belong to the group of the orphan diseases, together they account for a significant worldwide disease burden.

Main Objectives
Our group's vision is to alleviate the burden of NMDs (i) through improving existing initial treatments by providing expert diagnostic applications and (ii) through facilitating the future development of novel therapeutic avenues by studying the underlying molecular and genetic (patho-)mechanisms.

Content of Research
The NMRD stands at the crossroad of comprehensive diagnostic work-up of NMDs of affected human patients and basic research in the field of NMDs aiming to explore underlying (patho-)mechanisms and molecular genetic defects. Our group's competency encompasses a wide spectrum of screening methods of human muscle biopsies (histology, immuno-histochemistry, immunofluorescence, enzyme histochemistry, electron microscopy, biochemical assays). Moreover, we perform DNA testing from human NMD patients using conventional molecular genetic techniques and next-generation sequencing (NGS). Owing to the power of NGS in both research and diagnostics, we develop integrated bioinformatic data analysis pipelines.

» NMRD Diagnostic Lab