Dieter Edbauer

Biography

Dieter Edbauer studied medicine in Munich (1994-2000). In his doctoral work with Prof. M. Hallek at the Gene Center of the Ludwig-Maximilians-Universität (LMU), he worked on DNA vaccines against lymphomas (1998-2001). As physician in training (AiP), later as postdoc and then as research assistant, he transferred to the Adolf-Butenandt-Institut, LMU, where he studied the biochemical mechanisms of AD with Prof. C. Haass (2001-2004). As a highlight of this work a key enzyme of AD, the so called gamma-secretase, could be defined for the first time on a molecular basis. A stay abroad followed at the Massachusetts Institute of Technology (MIT) in the laboratory of Prof. M. Sheng (2004-2009). There he focused on signal transduction and cell biology in neurons in association with AD and the fragile X syndrome. In November 2009 Dr. Edbauer returned to Munich as the first Helmholtz junior research group leader at the newly founded DZNE and was jointly appointed as W2 professor at the LMU. In 2013 Prof. Edbauer discovered dipeptide repeats (DPR) proteins in C9orf72 ALS and FTD and later received a Consolidator Grant from the European Research Council (ERC) to further elucidate their role in the disease. The aim of his research is to identify new therapeutic targets for ALS, FTD and Alzheimer by elucidating the cell biology of neurodegeneration.

Research Interest

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are fatal neurodegenerative diseases with overlapping genetics and pathology. The most common cause is expansion of a GGGGCC repeat in the first intron of the gene C9orf72. We discovered that the repeat region is translated in all reading frames into aggregating dipeptide-repeat (DPR) proteins despite its intronic localization and lack of an ATG start codon (Mori&Weng et al., Science 2013). DPR aggregates outnumber the previously identified TDP-43 inclusions in the hippocampus, cortex and cerebellum. Some patients exclusively show DPR pathology, strongly suggesting DPR production is a key pathomechanism in C9orf72 mutation carriers. However, we know next to nothing about the mechanisms of translation, toxicity, aggregation and clearance of DPR proteins. In an ERC funded project, we now characterize this unusual pathomechanism in detail using diverse model systems combined with in depth analysis of the pathology in patient tissue. Using these models we will develop strategies to inhibit expression, aggregation and toxicity of DPR proteins. We also have a strong interest in neuron-specific pathomechanisms in other forms of FTD/ALS and Alzheimer’s disease focusing on altered gene expression through RNA-binding proteins (e.g. TDP-43 and FUS) and microRNAs.