Neurodegenerative Lysosomal Storage Disorders
Our research aims to understand disease mechanisms in neurodegenerative lysosomal storage disorders using human induced pluripotent stem cell models to elucidate the contribution of different brain cells to the disease progression and to develop novel therapeutic strategies for these diseases.
Lysosomal storage disorders are caused by mutations in genes that encode enzymes and proteins in the lysosome, affecting the catabolism of specific macromolecules, which will then accumulate within lysosomes causing cellular and organ dysfunction.
A majority of these rare diseases present different degrees of neuropathology, for which there is no available therapy.
To better understand the neuropathological mechanisms of these diseases will help us to identify potential therapeutic targets.
We use human induced pluripotent stem cells to generate brain cells and brain organoids that can provide new and valuable knowledge on what is the contribution of different brain cells to disease onset and progression and to help us develop and test new therapeutic approaches.
