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Funded Studies

Whole genome sequencing and analysis of the PPMI prodromal and genetic cohorts, PPMI genetic registry, and the LRRK2 cohort consortium

Study Rationale:                   

This work aims to provide genetic information for the whole genome and assess the role of the identified genetic information in Parkinson disease. To do this samples from the PPMI prodromal and genetic cohorts, PPMI genetic registry, and the LRRK2 cohort consortium will be whole genome sequenced.

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, PPMI genetic registry, and the LRRK2 cohort consortium will be received by the laboratory. The DNA will be assessed for quantity and quality. Those samples that pass quality control be whole genome sequenced using Xten sequencing using standard methods. 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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