Director of the Biorepository of the Department of Neurology, Beth Israel Deaconess Medical Center
The Benitez lab primarily focuses on using high-throughput technologies to deeply analyze biospecimens from patients with neurodegenerative diseases. We generate and integrate large datasets of various types, including phenotypic (clinical and neuropathological), genomic, transcriptomic, proteomic, and metabolomic data. We aim to identify new molecular profiles associated with these diseases’ biology and clinical progression. We are also interested in studying autophagy-lysosomal dysfunction found in neurodegenerative diseases, using cell and mouse models for functional characterization. Our research combines the latest techniques in human genetic discoveries (such as whole exome sequencing and GWAS data) with functional genomic analysis of patient samples (such as single-nucleus RNA sequencing, proteomic data, and bulk RNA sequencing data) and in vitro (cell lines and CRISPR/Cas9-corrected patient-derived cells) and in vivo experiments (such as and stereotaxic delivery of Adeno-associated virus in mouse models). We use molecular and cellular techniques to functionally characterize the impact of genes/proteins and networks in models of neurodegenerative diseases. Our goal is to improve our understanding of the underlying causes of neurodegeneration, enabling molecular subtyping of patients with neurodegenerative diseases, identifying novel intermediate traits involved in neurodegeneration, providing strategies for selecting cohorts for testing therapeutic targets, and paving the way for the identification of disease-modifying targets for neurodegenerative diseases.