Research subject Neurodegenerative diseases

Neurodegenerative diseases are characterized by the selective loss of specific neuronal populations with corresponding distinct clinical features.

Why specific neuron types are particularly vulnerable to neurodegenerative disease processes, such as motor neurons in amyotrophic lateral sclerosis (ALS), dopamine neurons in Parkinson’s disease (PD), purkinje neurons in ataxias, von Economo neurons in frontotemporal dementia (FTD) and cholinergic neurons in Alzheimer’s disease (AD), is currently unclear and an area of active research. It is particularly intriguing as disease-causative genes are often broadly expressed in the nervous system and sometimes even in every cell in our body. Cellular processes that are affected in neurodegenerative diseases and that we study in the department include chromatin organization and the nuclear pore, DNA repair, RNA metabolism, translation, protein folding and localization, lipid metabolism, membrane-less organelles including stress granules, axonal transport, and mitochondrial function.

We are using an array of approaches and methods to understand and dissect disease process in multiple cell types and tissues that may contribute to degeneration of particular neuron types. We use genome editing (CRISPR/Cas9), gene silencing (RNAi), stem cells, advanced cell culture models including also primary human cells, animal models, patient tissues and fluid samples, neuroanatomy, epigenomics, transcriptomics, proteomics and biochemistry to unravel how cells and tissues respond to disease-causative gene mutations.