Research

We focus on understanding mechanisms of genetic risk for neurodegenerative diseases. Specifically, we use single cell functional genomic 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.

We have 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. We fill this knowledge gap by using iPSC models of neurodegenerative disease to define how candidate genes influence neuronal/glial functions.