A large study of Parkinson’s disease genetics led by CENTOGENE, and the University of Rostock in Germany, shows approximately 15% of all cases of the disease are driven by genetic variants.
As reported in the journal Brain, the researchers also confirmed that around 90% of individuals with a genetic form of the disease had mutations in the LRRK2 or GBA1 genes.
“Estimates of the spectrum and frequency of pathogenic variants in Parkinson’s disease in different populations are currently limited and biased. Furthermore, although therapeutic modification of several genetic targets has reached the clinical trial stage, a major obstacle in conducting these trials is that Parkinson’s disease patients are largely unaware of their genetic status and, therefore, cannot be recruited,” write the study authors.
“Expanding the number of investigated Parkinson’s disease-related genes and including genes related to disorders with overlapping clinical features in large…groups is a prerequisite for capturing the full variant spectrum underlying Parkinson’s disease and for stratifying and prioritizing patients for gene-targeted clinical trials.”
CENTOGENE is a genetic diagnostics company based in Rostock in Germany and has a focus on rare and neurodegenerative disease. It has collected a large biobank of disease data on various conditions to help model different diseases and collect information on possible biomarkers and therapeutic targets.
The Rostock International Parkinson’s Disease (ROPAD) Study was set up by the company to gain detailed insights into the genetics of the disease with a view to better understanding disease progression, creating better diagnostics and searching for potential treatment targets.
The study included more than 12,500 people with the condition from 16 countries. Of these, a genetic variant linked to the disease was found in 1800 participants. Overall, 1010 and 303 had a disease-linked variant in the GBA1 and LRRK2 genes, respectively. Other gene variants were also found, but in lower numbers. For example, 119 and 25 participants, respectively, had mutations in the genes PRKN and SNCA.
“Our collaborative work clearly shows how significant of a role genetics plays in Parkinson’s disease and underscores the need to integrate genetic testing in routine care of these patients,” said Peter Bauer, chief medical and genomic officer at Centogene, in a press statement.
“This will not only enable access to potentially available treatments but will de-risk and accelerate the development of gene-specific therapies—driving the future of Parkinson’s disease patient care.”
CENTOGENE recently launched a ROPAD Consortium to encourage and promote collaborative research into different aspects of Parkinson’s disease using this data.
