Assistant Professor

Research Areas
Functional genomics; single cell technologies, long-read transcriptomics, neurodegenerative diseases

Research Interests

Research in my lab involves understanding how genetic variation influences cellular function through altered gene regulation in specific cell types in the brain. We apply single cell and long-read sequencing technologies to identify and characterize cell type-specific regulatory mechanisms disrupted in neurodegenerative and neurodevelopmental diseases. Using differentiated iPSC disease models, we validate our findings in disease-relevant cell types with large-scale CRISPR interference screens and other functional genomics techniques.

Functional Genomics

This project focuses on understanding mechanisms of genetic risk for neurodegenerative diseases. Specifically, we use single cell functional genomics approaches to identify genetic variants in non-coding cis regulatory elements that alter cell type-specific expression of genes involved in disease onset and progression. Based on these findings we identify key transcription factors involved in disease-specific regulatory networks and mechanistically define their role in disease. There are two main goals: 1) promote better interpretation of the contribution of specific genetic variants to disease risk and 2) identify new avenues for therapeutic intervention (eg transcription factors regulating gene networks perturbed in disease). While large-scale efforts are underway to characterize many aspects of neurodegenerative disease, there is a need for mechanistic follow-up on candidate genes implicated in disease onset and progression. This project focuses on filling this gap using iPSC models of neurodegenerative disease to define how candidate genes influence neuronal/glial functions. Based on our previous study of Alzheimer’s disease, we identified ZEB1 as a key regulator of AD-specific cis regulatory elements (CREs). A separate project will follow up on this finding to validate ZEB1-bound CREs and investigate the role of ZEB1 in normal neuronal functions and in an iPSC model of AD.

Education

Ph.D., University of North Carolina at Chapel Hill
Postdoc, Johns Hopkins University School of Medicine 

Contact

Office Location
Shelby Biomedical Research Building
Room 705
1825 University Blvd.
Birmingham, AL 35294

Email
rizzardi@uab.edu

Phone
(205)-934-4700