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• W3036004472 abstract "Author(s): Schneider, Ruth B; Myers, Taylor L; Rowbotham, Helen M; Luff, Marie K; Amodeo, Katherine; Sharma, Saloni; Wilson, Renee; Jensen-Roberts, Stella; Auinger, Peggy; McDermott, Michael P; Alcalay, Roy N; Biglan, Kevin; Kinel, Daniel; Tanner, Caroline; Winter-Evans, Reni; Augustine, Erika F; Cannon, Paul; 23andMe Research Team; Holloway, Robert G; Dorsey, E Ray | Abstract: BackgroundThe rise of direct-to-consumer genetic testing has enabled many to learn of their possible increased risk for rare diseases, some of which may be suitable for gene-targeted therapies. However, recruiting a large and representative population for rare diseases or genetically defined sub-populations of common diseases is slow, difficult, and expensive.ObjectiveTo assess the feasibility of recruiting and retaining a cohort of individuals who carry a genetic mutation linked to Parkinson's disease (G2019S variant of LRRK2); to characterize this cohort relative to the characteristics of traditional, in-person studies; and to evaluate this model's ability to create an engaged study cohort interested in future clinical trials of gene-directed therapies.MethodsThis single-site,3-year national longitudinal observational study will recruit between 250 to 350 LRRK2 carriers without Parkinson's disease and approximately 50 with the condition. Participants must have undergone genetic testing by the personal genetics company, 23andMe, Inc., have knowledge of their carrier status, and consent to be contacted for research studies. All participants undergo standardized assessments, including video-based cognitive and motor examination, and complete patient-reported outcomes on an annual basis.Results263 individuals living in 33 states have enrolled. The cohort has a mean (SD) age of 56.0 (15.9) years, 59% are female, and 76% are of Ashkenazi Jewish descent. 233 have completed the baseline visit: 47 with self-reported Parkinson's disease and 186 without.ConclusionsThis study establishes a promising model for developing a geographically dispersed and well-characterized cohort ready for participation in future clinical trials of gene-directed therapies." @default.
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• W3036004472 date "2020-07-28" @default.
• W3036004472 modified "2023-10-17" @default.
• W3036004472 title "A Virtual Cohort Study of Individuals at Genetic Risk for Parkinson’s Disease: Study Protocol and Design" @default.
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• W3036004472 doi "https://doi.org/10.3233/jpd-202019" @default.
• W3036004472 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7505001" @default.
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