Bruno Benítez, MD
Assistant Professor of Psychiatry
Integration of phenotypic data with genomic, transcriptomic and proteomic data of individuals with neurodegenerative diseases Read More
|Lab Phone:||(314) 362-4476|
|Lab Location:||BJC IH 9202|
|Keywords:||Functional Genomics, Alzheimer, Parkinson, Autophagy, Lysosome, Proteomics, Transcriptomics, Single-Nuclei RNA-Seq|
Integration of phenotypic data with genomic, transcriptomic and proteomic data of individuals with neurodegenerative diseases
My research interests are focused on the integration of phenotypic (clinical, neuropathological, neuroimaging, biomarkers) data with genomic, transcriptomic and proteomic data of individuals with neurodegenerative diseases including Alzheimer’s and Parkinson’s disease. I am also interested in using cellular and animal models for validating genes and pathways associated with disease etiology and progression. Currently, my lab is using 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, proteomic data, Bulk-RNA sequencing data) with in vitro (e.g., CRISPR/Cas9-corrected patient-derived iPS cells and primary cells) and in vivo (e.g., stereotaxic delivery of Adeno-associated virus (AAV) or a-Synuclein preformed fibrils) in AD or PD mouse models experiments. My research is based on mining publicly available and generated through private collaborations high dimensional data including GWAS, exome-chip, whole-genome, and exome sequencing, methylation, RNA-seq, quantitative protein, and longitudinal clinical data to unravel the genetic and genomic underlying defects of the Autophagy-lysosomal dysfunction in Alzheimer’s and Parkinson’s diseases and translate this knowledge to potential therapeutic molecular targets.