| Title: | Replication of candidate genes associated with Parkinon's disease and cutaneous malignant melanoma using whole-exome sequencing data. |
| Lead Institution: | Northwestern University |
| Principal investigator: | Dr Steven Lubbe |
Application 78210
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About
Parkinson's disease (PD) is a complex neurodegenerative disorder with many genetic factors. Several genetic changes have been shown to cause or increase a person's chance of getting PD, however many genetic factors are still unknown. Recent advances using next-generation sequencing data allow us to study rare (seen in very few people) genetic changes that are believed to play an important role in whether someone gets PD or not. Here, we propose to use the UKBiobank 200,000 whole-exome dataset to expand our current research and confirm our identified links of candidate genes coming from studying (i) the shared genetics between PD and cutaneous malignant melanoma (CMM) as suggested from increased chances of getting CMM in PD patients and vice versa; (ii) the role of having too many ultra-rare genetic variants that are known to be important in several other neurological diseases including Alzheimer's disease and schizophrenia; and (iii) to candidate genes affected by rare variants in early-onset PD cases that have long stretches of identical genetic changes in their genomes. We expect to complete the replication analyses in a timeframe of 12 months. Any positively replicating candidate gene will support our current findings and will help us to prioritize genes for functional analysis, that will expand the current knowledge of PD pathogenesis, and serve as a potential guide for future therapies.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 14717 | Commander complex regulates lysosomal function and is implicated in Parkinson's disease risk | Georgia Minakaki (+5) | 2025 | Science |
| 14685 | Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson's disease risk | Alejandro Cisterna-Garcia (+9) | 2024 | Brain |
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