Study About Parkinson's Includes Data from 23andMe

A new study about Parkinson’s Disease, that was published in the journal Nature Medicine, relied on data from more than four million 23andMe customers. The results of the study may help speed efforts to find drug targets for treating Parkinson’s disease.

Working with researchers at 23andMe, scientists at the Broad Institute of MIT and Harvard were able to identify a very rare group of individuals who have what are called “loss of function” alleles in the gene LRRK2. These 1,400 individuals also do not appear any more or less healthy than those without the loss of function alleles, even though the alleles have essentially turned off the function of one of their LRRK2 genes.

The paper was one of seven published by the researchers using data from Broad’s Genome Aggregation Database (gromAD), which brings together exome and sequence data from many sources for researchers. Leveraging that data, the researchers looked not just at Parkinson’s disease, but also developed a catalog of human variation, insights into population genetics, disease association and diagnostic screening.

A grant from the Michael J. Fox Foundation helped pay for the work on the LRRK2 paper, which included essential contributions from scientists at Imperial College London, and the Icahn School of Medicine at Mount Sinai. The study also included data from the UK Biobank and Broad’s genomAD.

As part of their work, the researchers were also able to confirm many known loss of function variants in the LRRK2 gene, which are extremely rare.

But the researchers also found that about 1,400 individuals in the 23andMe database carried one of three loss of function variants. The 23andMe data includes extensive health as well as phenotypic information. This helped researchers to determine that those individuals did not appear to be suffering health effects from that loss of function.

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