Confirming the trans effect in PD Gene Regulation

Working in collaboration with the University of Auckland this project builds on previous findings specifically looking at single nucleotide polymorphisms that regulate GBA expression and the set of genes regulated by the 90 recognized PD risk loci. The goal of this study is to functionally validate ~12 hits identified using an informatics approach in human stem cell models.

The two objectives of this study include screening PD associated and GBA SNPs in the KOLF2 cell line in a luciferase assay and confirming that variants modulate their respective target genes. This study has the potential to identify new targets and pathways that play a role in PD and identify modifiers of GBA expression and function that can be used for patient stratification.