Member Publications and Conference Presentations - Q1 2024

Hello @DCoP_Innovators and new members! We’re excited to hear about what publications and conference presentations you’re working on and/or have completed this quarter. Please use this thread to add links to any relevant papers or pre-prints that you have written recently, or to link to slides and/or recordings of your conference presentations.

This will allow us to see what our peers are working on, and potentially lead to opportunities for districution and collaboration!

Looking forward to seeing some of your work!

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Hi all!

I am pleased to share a recent publication from my group titled: NIH Toolbox performance of persons with Parkinson’s disease according to GBA1 and STN-DBS status. Click here for more information

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Hi everyone! There are some projects in progress:

Evaluating the performance of polygenic risk profiling across diverse ancestry populations in Parkinson’s disease. This project was presented also in the recent MDS PAS conference.

Also, in the same conference, we shared some work on return of genetic results in GP2 (I don’t know why it is showed in this weird way in the webpage)

And we are waiting for this other project to be published NeuroBooster array

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Hi everyone, new paper here looking at mixed neuropathologies in our brain bank and how they contribute to clinical symptoms:

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@mattk I saw you mention in @jgottesman 's AAN thread that you’ll be presenting a poster at the upcoming conference.

Could you share more here?

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I’m happy to share!

Here’s my AAN 2024 poster that I’ll be presenting on Wednesday, April 17, from 5:30 PM - 6:30 PM (#006 in Neighborhood 3). Please stop by if you are attending!

It provides a summary of the results from 23andMe’s Parkinson’s Impact Project—a longitudinal prospective cohort study of LRRK2 G2019S carriers with and without Parkinson’s disease.

Our manuscript is in press at Brain; however, if you’d like a sneak peak here’s the preprint.

aan-poster-2024-kmiecik-v4.pdf (4.9 MB)

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Hi!
I’m happy to share this recently published paper by our group.
Here, using post-GWAS analysis, we explore the potential genetic association between PD and depression

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@mattk I find it really interesting. Thanks for sharing. I was going to attend to this conference, but I saw soo little of PD and other movement disorders, that I am not going. Anyway, regarding your pre-print and poster, If I get it right, there was no East Asian population in your study. If so, was it on purpouse? How where the cohorts selected for inclusion criteria? Just to understand better the LRRK2 distribution.
Many thanks
And it is very interesting what 23andME does by leveraging this huge amount of data. Are you planning to expand outside the US?

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Hi @psaffie, thank you for your interest in our work! We received similar questions during the peer review process. I hope the responses below help answer your questions, but please don’t hesitate to reach out if there’s more I can answer.

You are correct that we observed little to no East Asian ancestry in our study. This was not on purpose, but rather reflects that there are fewer LRRK2 G2019S carriers of Asian ancestry, which is likely to be a major reason why this population is under-represented. We observed low numbers of non-European participants in LRRK2 G2019S carriers: 11% with PD and 20% across all carriers.

Specific eligibility criteria for the LRRK2 G2019S participants included: 1) confirmation of at least one LRRK2 G2019S allele; 2) being aware of their carrier status, i.e., having opted into receiving and opening their 23andMe FDA-cleared LRRK2 G2019S carrier status report that included a referral for genetic counseling; and 3) permission to be recontacted about research opportunities. LRRK2 G2019S participants were therefore 23andMe customers that were consented for research participation.

Eligible non-carriers were randomly selected from the 23andMe Research cohort. All study research participants were >18 years old, US residents, and provided informed consent to volunteer to participate (protocol approval: AAHRPP-accredited Salus IRB).

We are unable to expand to outside the US given that our institutional review board (IRB) policy enables us to only perform research on participants within the US.

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