Whole-Genome Sequencing of Parkinson’s Patients

(Editor’s note: Here is a link to Cory’s poster presented at ASHG.)

Parkinson’s disease (PD) research has long been a priority at 23andMe. Our Parkinson’s research community is one of the largest in the world with over 9,300 patients.  Our research on the disease has been published in peer-reviewed journals.  And our scientific contributions have received wide acclaim with generous help from the Michael J. Fox Foundation, Muhammad Ali, and many others. Given our dedication to and reputation for Parkinson’s research, it isn’t surprising that this disease is also the subject of our first whole-genome sequencing project.

Genotyping and whole-genome sequencing are two very different ways of approaching genetic data; one of the primary differences is that genotyping only looks at a subset of locations in your DNA whereas sequencing looks at every location.  Sequencing, thus, generates a lot more data.  23andMe’s Personal Genome Service ® is currently based only on genotyping but the company has been exploring sequencing as the costs of the technology have dropped.

23andMe’s first whole-genome sequencing project sequenced 50 customers who agreed to be a part of this research study. Each one of these customers has a mutation called G2019S in the LRRK2 gene that is associated with much higher risk for Parkinson’s disease. But not everyone with this mutation develops Parkinson’s.

Cory McLean, a computational biologist at 23andMe, is using sequence data from these 50 customers to try to discover why.

You, too, can contribute to research! How? One easy way is to answer the research surveys at 23andMe.

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Of the 50 people with the G2019S mutation studied, 37 have Parkinson’s and 13 do not. Cory has compared the genetic sequence data of those affected and those unaffected in hopes of finding genetic differences between the two groups that help explain why some have developed Parkinson’s while others haven’t. The study also confirms that it is possible to generate accurate whole-genome sequencing data from saliva samples (rather than blood).

Cory will present some of his initial findings in a poster at the annual meeting of the American Society of Human Genetics (ASHG) on November 7. The hope is that this genetic data will open up new avenues for Parkinson’s research.

  • Bob

    I was diagnosed with PD 16-1/2 years ago based upon my need for dopamine. I have the typical roller coaster ride . When I am OFF I’m really off. Last year I had a fancy brain scan to see if my dopamine cells are dying off. According to that scan all my dopamine cells are still intact, and knowing nothing else I’d be classified as having Essential Tremor. Essential Tremor however does NOT respond to dopamine therapy, which I do. My neurologist thinks I have a “rare atypical form” of Parkinson’s, and wants to do the brain scan again in 5 years time — that assumes I am still alive. The two things that stand out is the very, very S-L-O-W progressivity of the disease, and it started in my RIGHT side, NOT my LEFT, and that it responds to dopamine therapy, yet there is not sign dopamine cell destruction. If you are looking for test subjects I’d be more than happy to take part in your study.

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