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Research Activities

Focal Human Epilepsies and Epilepsy Database

Our working group addresses drug-resistant focal epilepsies in humans to decipher molecular pathomechanisms in brain lesions associated with chronic seizures, e.g. hippocampal sclerosis, glio-neuronal tumors, and focal cortical dysplasias. In collaboration with our clinical and neuropathology colleagues from Germany and many other European countries we have established the European Epilepsy Brain Bank (EEBB), a reference and consultation center for neurosurgical epilepsy tissue specimen.

Under the supervision of Ingmar Blümcke (MD) and Roland Coras (MD) our clinical epilepsy research focusses on the systematic analysis of surgically resected human brain specimens in correlation to clinical histories and postsurgical follow-up data, and our work contributed in establishing new international standards for clinicopathological diagnosis of Focal Cortical Dysplasias (ILAE classification 2022) and Hippocampal Sclerosis (ILAE classification 2013).

Under the supervision of Katja Kobow (PhD) our group also addresses molecular pathomechanisms of epileptogenesis. We study epigenetic chromatin modifications in human surgical specimens and use an experimental animal model with 24h video-EEG monitoring to quantitatively examine seizure burden in animals. In this model, we also tested new therapeutic approaches modifying DNA methylation by a ketogenic diet regimen. Research of human epilepsies and histopathologically well-characterized surgical specimens obtained from patients with temporal lobe epilepsy opens new avenues to also study higher brain function in humans, as the hippocampus plays a major role in memory formation and recall. In addition, our finding of epilepsy-induced neurogenesis in the human hippocampus offers the possibility to unravel molecular signals for the recruitment, proliferation, and differentiation of adult stem cells in the human brain.

Molecular Myopathology

The central research topic of this group led by Rolf Schröder (MD) and Harald Herrmann (PhD) is the pathogenesis of myofibrillar myopathies which are morphologically characterized by the presence of pathological protein aggregation in cross-striated muscle cells. These adult onset and often heritable myopathies are clinically characterized by a progressive course leading to severe disability and premature death. To date, no drug treatment is available for these disorders. The main focus of our current research work is the generation and characterization of transgenic mouse models for the IBMPFD disease (Inclusion Body Myopathy associated with Pagets disease of bone and Frontotemporal Dementia), the desmin myopathy and cardiomyopathy, and the filamin C-associated myopathy. The clinical, morphological, biochemical, and molecular analysis of these mouse models shall provide deeper insights into the molecular ”sequence” that leads to pathological protein aggregation and progressive muscle damage in these disorders. This work will be the basis for novel targeted treatment strategies. Our research is currently funded by the DFG (research unit FOR 1228, see own report), the Else-Kröner-Fresenius Foundation, the Johannes und Frieda Marohn-Foundation, and the Deutsche Gesellschaft für Muskelkranke.

Neuro-Oncology

The field of neurooncology plays an important role within the clinical-neuropathological diagnostics. Due to the longstanding focus of the Department of Neurosurgery in Erlangen on the treatment of tumors of the sellar region (e.g. pituitary adenomas, craniopharyngiomas), a unique collection of surgical tissue samples is available for systematic molecular-neuropathological analyses.