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CENTOGENE Unveils Novel Genetic Risk Factor for Parkinson’s Disease in The Lancet Neurology

NextEdge Admin

25 Sep 2024

2 min 19 sec

neurodegenerative disease,The Lancet Neurology

Centogene N.V., a key partner in rare and neurodegenerative disease research, has announced new data from its Rostock International Parkinson's Disease (ROPAD) study, reinforcing the link between a RAB32 gene mutation and Parkinson's disease (PD). Published in *The Lancet Neurology*, the study builds on prior research by Emil K. Gustavsson and team, who identified the RAB32 c.213C>G (p.Ser71Arg) variant as a novel cause of PD.

Whole Genome Sequencing (WGS) of 3,354 PD patients in the ROPAD study revealed that nine participants from Germany, Italy, Spain, and Türkiye carried the RAB32 c.213C>G mutation—0.3% of the cohort, significantly higher than the 0.002% found in general population databases.

“This study deepens our understanding of the RAB32 mutation as a cause of Parkinson’s and opens pathways toward potential cures,” said Prof. Peter Bauer, Chief Medical and Genomic Officer at CENTOGENE. The findings suggest no difference in age at onset between mutation carriers and non-carriers, though gender and clinical characteristics varied. The shared haplotype supports a single founder mutational event.

Christian Beetz, Senior Director Genomic Innovation, emphasized the importance of genetic testing in PD care, noting its role in advancing gene-targeted therapies. Krishna Kumar Kandaswamy, Vice President of R&D Bioinformatics, highlighted the insights gained from the world’s largest genetic PD cohort, which will drive future research and clinical outcomes.

CENTOGENE has launched a ROPAD Consortium to continue its collaborative research and accelerate treatment development for Parkinson’s disease.