• Source: Scopus
20062020

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Personal profile

Research interests

I am a physician-scientist studying the functional consequences of disease-causing and risk-associated variants in Alzheimer’s disease (AD), Parkinson’s disease (PD), Fronto-temporal dementia (FTD) and adult-onset adult Neuronal ceroid lipofuscinosis (ANCL). As part of my research projects, I use a combination of state-of-the-art approaches in human genetic discoveries (e.g. thousands of whole exome sequencing and GWAS data), functional genomic analyses (e.g. single nuclei RNA-sequencing from AD patients) with in vitro (e.g. patient-derived iPS cells and primary cells) and in vivo (e.g. stereotaxic delivery of Adeno-associated virus (AAV) or ?-Synuclein preformed fibrils in AD or PD mouse models) experiments.

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