Objective/Rationale:
The identification of genes underlying risk for Parkinson’s disease (PD) helps to further the understanding of this complex disorder, with the discovery of new genes contributing to PD risk allowing researchers to work towards a resolution of the genetic component of the disease etiology. We hope to use early-onset PD patients from a genetically conserved Finnish population to identify novel risk loci.
Project Description:
Participants were recruited from a registry of Finnish recipients of pharmaceutical reimbursements. Early-onset PD patients who consented to genetic testing underwent blood-sampling, and relevant medical and demographic data was collected for each participant. Participants are then assayed for ~660,000 common genetic variants.
Using a variety of cutting edge analytical techniques, we will survey the genome of each participant, looking for regions of the genome similar only among cases. These shared risk regions will be further analyzed in detail to screen for mutations contributing to monogenic forms of early-onset PD. Studies of this sort are ideal for conducting in conserved populations such as the Finnish, whose genetic structure on a population level may increase the likelihood of detecting risk loci.
Relevance to Diagnosis/Treatment of Parkinson’s Disease:
This project will contribute to a greater understanding of the genetic factors contributing to PD risk. The identification of new genetic risk factors will add greater depth to the current knowledge of biochemical pathways associated with PD development. The identification of novel loci associated with risk will likely prove useful in the upcoming era of personalized medicine and gene therapy.
Anticipated Outcome:
We expect to identify shared segments of the genome among early-onset PD cases that are not found or extremely rare among the general population. These regions identified in cases will likely harbor a mutation(s) passed down through generations of Finish PD cases.