Genomic registry of Parkinson disease

• Applicants: Professor Stephan Ossowski, Ph.D.; Privatdozent Manu Sharma, Ph.D.
• Subject Area: Molecular and Cellular Neurology and Neuropathology
• Term: since 2023
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 514177729

The technological advancements have altered the genomic landscape of complex diseases, including Parkinson disease (PD). A recently published genome-wide association study identified a total of 90 loci explaining an overall heritability estimated between 16-36% in PD. The majority of the discoveries have been made in the Caucasian population. There remains a bottleneck, as the emerging evidence indicates that capturing the genetic variability in ethnically diverse populations such as African, Latin American, and South Asian populations will improve to capture better the underlying heritability in PD. Furthermore, rare variants, including structural variants, which are not yet captured by array-based approaches are thought to contribute to disease risk. The proposal, GENOM-PD, aims to perform 500 long-range whole-genome sequencing (WGS) in clinically deeply-phenotyped 150 PD families ascertained from Caucasian and under-represented populations to identify novel PD loci. The top loci will be validated in the multi-ethnic cohort (15,000 PD cases and 11,000 controls). GENOM-PD aims to develop a data-sharing platform for the scientific community by leveraging the existing capabilities in Tübingen.

• DFG Programme: Research Grants