Uncovering early mechanisms leading to synaptic dysfunction in Synaptopathies

Synapses are the communication center of the neuron but they are especially vulnerable, since they are located far away from the soma and undergo highly active periods during neuronal communication that can lead to the accumulation of dysfunctional proteins. To ensure synaptic transmission, local synapse specific mechanisms take place to cope with proteopathic stress and to restore synaptic homeostasis.

A rising number of synaptic genes show mutations that cause or influence neurodegenerative conditions like Alzheimer, Amyotrophic lateral sclerosis, Huntington and Parkinson’s. Thus, identification of early pre-symptomatic synaptic defects occurring prior to neuronal decay is a fundamental need to identify “early” biomarkers with diagnostic value and to develop effective treatments before an irreversible neuronal damage occurs.

My laboratory concentrates to understand how imbalance in synaptic homeostasis leads to the onset of neurodegeneration by exploring synaptic protein quality control as a root of neurodegeneration. We will benefit from state-of-the-art genome editing, biophotonics, time-lapse confocal imaging and super-resolution correlative electron microscopy to study synaptic homeostasis in Drosophila and mammalian primary neuronal cell cultures.

We aim to open new avenues with profound implications for neurodegenerative diseases and aging. Our research will provide an attractive base for patents and translational research towards new therapeutic solutions