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Identifying Common, Non-Coding Genetic Drivers of Neuroinflammation in Parkinson’s Disease

Study Rationale: 

Accumulating evidence supports a link between inflammation and Parkinson’s disease (PD). However, researchers do not fully understand which parts of the immune system are important or how they might contribute to PD. Team Hafler recently discovered that the immune system is activated early in disease, even before the typical motor symptoms of PD begin. In particular, we found a greater number of immune cells called macrophages in the fluid surrounding the brain and spinal cord. These macrophages respond quickly when the brain is damaged and show signs of being activated early in PD.

Hypothesis:

I hypothesize that common genetic risk factors for PD may act through immune cells like macrophages to drive inflammation and neurodegeneration.

Study Design:

I will use cutting-edge genetic tools to identify which of the thousands of PD genetic risk variants control gene activity in macrophages. I will also analyze the Parkinson5D Brain Atlas (developed by Team Scherzer) to study how genetic risk shapes immune activity in the brain, and how this is dynamically regulated across different parts of the brain and at different stages of disease. 

Impact on Diagnosis/Treatment of Parkinson’s disease:                    

This collaborative project will bring together genetics, neuroscience, and immunology to uncover how inflammation contributes to PD and will identify new immune treatment targets that could stop or slow PD progression.

Next Steps for Development:

Once I identify the most important genetic risk factors linked to inflammation in PD, the next step will be to conduct in-depth studies to understand how they work and identify drugs that could target these disease-related pathways.


Researchers

  • M. Elizabeth Deerhake, MD, PhD


  • David A. Hafler, MD

    New Haven, CT United States


  • Clemens Scherzer, MD

    New Haven, CT United States


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