New research uncovers 17 new genetic variants linked to Parkinson’s disease

In the UK, every hour someone receives the devastating news that they have Parkinson’s disease. One in every 500 people suffers from Parkinson's, which equates to approximately 127,000 people across the UK. The majority of those diagnosed with Parkinson's are aged over 50, but for many, it will begin far earlier. There is currently no cure.

In new research published yesterday in Nature Genetics, personal genetics company 23andMe, Inc, and Genentech have identified 17 new genetic variants associated with Parkinson’s disease, almost doubling the total number of known risk variants for the condition, providing researchers with new hope for potential treatments to better target the disease in future.

The research, which began in early 2015, is part of a multi-year collaboration between the two companies and marks the largest meta-analysis of Parkinson’s disease to date, using data from more than 425,000 individuals.

“We are incredibly excited by these findings and their potential to lead to breakthroughs in therapeutic research and treatment for Parkinson’s disease,” said Anne Wojcicki, 23andMe’s co-founder and CEO. “The 23andMe Parkinson’s community is powered by our customers who are motivated to make a difference and see the Parkinson's research advance. The community is unlike any other, and it is an incredible asset for researchers to make breakthrough discoveries. These findings are a testament to both the power of the 23andMe Parkinson’s community and the company’s novel research model.”

More than 370,000 of the individuals involved in the study were 23andMe customers who consented to make their de-identified data available for study in aggregate and participate in the research. About 10,000 of them have Parkinson’s disease and are part of 23andMe’s Parkinson’s Research community, which is now the largest Parkinson’s disease community for genetic research in the world. The researchers also used data from individuals that are part of PDGene, a clearinghouse for Parkinson’s related research data that also includes data from 23andMe. Collaborating organizations involved in this study include: 23andMe, Inc., Genentech, Inc., the International Parkinson’s Disease Genomics Consortium (IPDGC), Laboratory of Neurogenetics, National Institute on Aging, US National Institutes of Health and Data Tecnica International.

In addition to identifying the 17 new risk genetic variants associated with Parkinson’s, the study confirmed many variants already known to be associated with Parkinson’s. It also identified new candidate genes. These genes are involved in lysosomal and autophagy biology, sometimes referred to as the body’s recycling and trash collection centers. This vital process involves first a sweep of the cells by autophagosomes, which collect damaged material. Then that material is transferred to lysosomes, which either break down the material or recycle it into new structures.

More recent research suggests that beyond its important recycling function, autophagy and lysosomal biology may also play important roles in regulating cell function.

Mounting evidence suggests that this process of clearing out damaged cellular material may be impaired in patients with Parkinson’s, and that this may contribute to the development and progression of the disease.

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