About

Our lab is focused on the deep-molecular characterization of a clinically well-defined cohort of patients with neurodegenerative diseases anchored in genomic data. We use a multi-disciplinary approach applying high-throughput technologies to generate a detailed molecular landscape of biospecimens of patients with neurodegenerative diseases. We generate and integrate large phenotypic (clinical and neuropathological) with genomic, transcriptomic, proteomic, and metabolomics datasets to identify novel molecular profiles associated with disease biology and clinical progression. We are also interested in the functional characterization of the autophagy-lysosomal dysfunction in neurodegenerative diseases in cells and mouse models. We combine state-of-the-art approaches in human genetic discoveries (e.g. whole exome sequencing and GWAS data), functional genomic analyses in samples neurodegenerative disease patients (e.g. single-nucleus RNA-sequencing, proteomic data, Bulk-RNA sequencing data) with in vitro (e.g. CRISPR/Cas9-corrected patient-derived cells) and in vivo (e.g. stereotaxic delivery of Adeno-associated virus) experiments. We aim to increase our understanding of the etiology of neurodegeneration to enable molecular subtyping of patients with neurodegenerative diseases, reveal novel intermediate traits involved in neurodegeneration, provide strategies for cohort selection for testing therapeutic targets, and pave the road to identify disease-modifying targets for neurodegenerative diseases.