medRxiv : the preprint server for health sciences · 2026
Bridging Genetics and Precision Medicine in Parkinson's Disease through GP2.
СтатьяПрепринтНазвание и аннотация: Перевод в очереди
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Atterling Brolin Kajsa, Lange Lara M, Navarro-Jones Emily, Jasaityte Simona, Ye Beh Yuan, Fang Zih-Hua, Iwaki Hirotaka, Jones Lietsel, Klein Christine, Kleinz Teresa, Leonard Hampton L, Mata Ignacio F, Noyce Alastair J, Okubadejo Njideka, Saffie Awad Paula, Screven Laurel, Tan Ai Huey, Toffoli Marco, Vitale Dan, Singleton Andrew, Blauwendraat Cornelis, Nalls Mike, Morris Huw R
Аннотация
In the Global Parkinson's Genetics Program (GP2) we aim to advance precision medicine by integrating large-scale clinico-genetic data from diverse populations worldwide. We investigated potentially trial-eligible carriers of pathogenic and high-risk GBA1 and LRRK2 variants and conducted a global precision-medicine survey across GP2 sites. Among 65,509 individuals with Parkinson's disease, we identified 9,019 (13.8%) potentially trial-eligible genetic variant carriers, including 6,789 GBA1, 2,084 LRRK2, and 146 dual GBA1-LRRK2 carriers. Individuals were distributed across multiple global regions, many of which currently lack active gene-targeted trials, highlighting a global disparity between relevant variant carriers and the availability of disease modifying treatment trials. GP2's unified framework supports equitable recruitment for gene-targeted therapeutic studies and helps address critical gaps in Parkinson's disease genetics and future therapeutic development.