Objective: To establish a deeply phenotyped Parkinson’s disease (PD) cohort in East Africa and generate genomic and biosample resources for discovery and replication of ancestry-specific genetic risk factors.

Background: The genetic architecture of PD has been predominantly defined through studies in populations of European ancestry, limiting both biological discovery and equitable translation of genomic medicine. Recent genome-wide analyses in West African cohorts have identified an African-ancestry risk locus at GBA1, likely acting through non-coding regulatory mechanisms distinct from previously characterised coding variants. These findings highlight the importance of ancestry-specific genomic investigation and the need to expand PD genetic research across the African continent.

Method: We are establishing a collaborative PD cohort in East Africa through partnerships with Aga Khan Hospitals in Kenya and Tanzania. Participants will undergo harmonised clinical phenotyping aligned with protocols from the Global Parkinson’s Genetics Program (GP2) to ensure compatibility with international genomic datasets. The study aims to recruit approximately 300 PD cases annually alongside matched controls. Biospecimens collected will include EDTA blood, plasma, PAXgene RNA, PBMCs and fibroblasts to support genomic, biomarker and functional studies. Genetic analyses will include genome-wide association approaches and sequencing strategies aimed at identifying both common and rare variants contributing to PD susceptibility in African populations.

Results: This initiative will generate one of the first large-scale Parkinson’s disease genomic resources in East Africa. The cohort will enable replication of findings from West African studies, including regulatory signals at GBA1, while the high genetic diversity and shorter linkage disequilibrium structure of African populations will improve fine-mapping resolution and support identification of novel susceptibility loci. Integration within the Global Parkinson’s Genetics Program (GP2) will enable harmonised data sharing and cross-ancestry meta-analysis.

Conclusion: Expanding PD genomic research in East Africa will improve understanding of the genetic architecture of Parkinson’s disease in under-represented populations. This initiative provides a foundation for gene discovery, biomarker development and precision medicine approaches in PD while strengthening sustainable neurogenetics research capacity in the region.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-parkinsons-disease-genomics-in-east-africa/