Stem cells and Neurodegenerative diseases

Summary

Our research interests lie primarily in the area of stem cells and regenerative medicine. Overall, our research goal is to leverage emerging stem cell technologies to better understand neurodegenerative disease, such as PD as well as neurodevelopmental disease such as THD, and to develop novel tools for the discovery of disease mechanisms and treatments. Over the past 10 years, in close collaboration with the group of Dr. Angel Raya and Dr. Eduardo Tolosa, we have amassed a large collection of iPSC lines representing patients of Parkinson’s disease (PD), including idiopathic and genetic forms associated to LRRK2G2019S mutation, as well as asymptomatic LRRK2G2019S carrier relatives and healthy individuals. For most of the LRRK2G2019S patients and carriers, her lab has also generated isogenic gene-edited iPSC controls. These iPSC lines have been used to generate dopaminergic neurons that display phenotypic hallmarks of PD and recapitulate the cellular, molecular, and epigenetic alterations found in neurons from PD patients. Moreover, leveraging on the advantages of iPSC-based disease modeling technology, we have recently unveiled the pathogenic contribution of non-neuronal cells to dopaminergic neurodegeneration in PD, uncovered early functional alterations in PD iPSC-derived neuronal networks, and screened for small molecules preventing neurodegeneration in PD. We also adopt gene editing approaches in our iPSC models to determine how specific targets influence protein aggregation and neuronal pathophysiology and to reveal mechanisms by which new protective genetic variants impact disease onset and progression. Recently, we are also developing advanced experimental in vitro models, such as brain-like organoids, to recapitulate the complexity of the human brain.

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Publications

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Consiglio, Antonella

Principal investigators

consiglio-consiglio-antonella

Consiglio, Antonella

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  • Consiglio, Antonella
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