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Funded Studies

NeuroX profiling of samples from the PPMI prodromal and genetic cohorts, the LRRK2 cohort consortium and the BioFIND cohort

Study Rationale:                   

This work aims to provide genetic information at common genetic variants and rare genetic variants that have been associated with Parkinson disease. To do this samples from the PPMI prodromal and genetic cohorts, the LRRK2 cohort consortium and the biofind cohort will be assessed using the NeuroX genotyping array.

Hypothesis:

This study aims to produce data that allows researchers to look at how genetic changes are involved in Parkinson disease. It also allows researchers to see if these genetic changes interact with other biological and clinical markers of disease.

Study Design:

DNA Samples from the PPMI prodromal and genetic cohorts, the LRRK2 cohort consortium and the biofind cohort will be received by the laboratory. The DNA will be assessed for quantity and quality. Those samples that pass quality control will be run on the NeuroX genotyping array using standard approaches employed within the laboratory. Data from these experiments will be quality controlled and then returned to the Michael J Fox Foundation to allow other researchers to access it. Results will be incorporated in to current genetic analyses that are ongoing within the laboratory.

Impact on Diagnosis/Treatment of Parkinson’s disease:              

This work has the potential to impact both diagnosis and treatment of Parkinson disease by contributing to ongoing efforts that aim to identify new genes and risk loci for disease. The identification of these genes and loci highlights pathways for the development of new therapies and improves our ability to predict who will get disease.

Next Steps for Development:

Genetics serves as the basis for much of the clinical development work in disease. Critical next steps will be incorporation of these data with other large well described series and a joint analysis with these series.

Final Outcome

  


Researchers

  • Andrew B. Singleton, PhD

    Bethesda, MD United States


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