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Funded Studies

Exploring How Mutations in Genes Associated with Parkinson’s Disease Alter the Activity of Other Genes

Study Rationale: Population studies have identified genetic changes that raise an individual’s risk of developing Parkinson’s disease (PD). However, this information doesn't help people if we don’t know how those changes lead to PD. We have used a computer program to identify genes that are turned on or off by the DNA changes that increase PD risk. We think that the genes we have identified help explain the mechanisms that underlie PD and that these genes make good targets for new ways to treat PD.

Hypothesis: We hypothesize that the genetic changes that enhance an individual’s risk of PD alter how other genes are regulated. We further hypothesize that different sets of changes cause different forms of PD in different people.

Study Design: In this study, we will determine whether the genetic changes that put people at risk of PD target gene expression. To do this, we will use gene editing tools to produce cells that harbor the genetic changes that enhance PD risk. We will then use a variety of methods to identify the genes whose activity is altered by these changes, isolate the proteins that are involved and determine how these regulatory changes affect neural development. The KOLF2.1 cells we will use in our experiments do not contain any mutations that cause other diseases.

Impact on Diagnosis/Treatment of Parkinson’s disease: If successful, this project will enhance our understanding of how the genetic changes associated with PD increase the risk of developing the disease, knowledge that will allow us to better care for people with PD and lead to new treatments that will stop or slow disease progression.

Next Steps for Development: We think that our results will facilitate the development of preventative approaches that stratify individuals based on the molecular pathways that are affected, allowing for individualized management. They will also allow us to test novel and repurposed drugs against the targets we discover, ultimately lessening the risk of developing PD.


  • Justin M. O'Sullivan, PhD

    Auckland New Zealand

  • Antony A. Cooper, PhD

    Sydney NSW Australia

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