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Output Catalog
ASAP is committed to accelerating the pace of discovery and informing a path to a cure for Parkinson’s disease through collaboration, research-enabling resources, and data sharing. We’ve created this catalog to showcase the research outputs and tools developed by ASAP-funded programs.
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Output Type
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Program
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CRN Team Name
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Theme
Black and African American Connections to Parkinson’s Disease Study: Addressing Missing Diversity in Parkinson’s Disease Genetics
Our current understanding of Parkinson’s disease and atypical parkinsonism-related syndromes is disproportionately based on studying populations of European ancestry, leading to a significant gap of knowledge concerning clinical features,…
Multi-modality machine learning predicting Parkinson’s disease
Personalized medicine promises individualized disease prediction and treatment. The convergence of machine learning (ML) and available multimodal data is key moving forward. We build upon previous work to deliver multimodal predictions of…
Underrepresented Populations in Parkinson’s Genetics Research: Current Landscape and Future Directions
This systematic review provides an overview of research involving Parkinson’s disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations.
Genome-wide association identified novel etiological insights associated with Parkinson’s disease in African and African admixed populations
Understanding the genetic mechanisms underlying diseases in ancestrally diverse populations is a critical step towards the realization of the global application of precision medicine. Here we perform a comprehensive genome-wide assessment of…
Global Parkinson’s Genetics Program Data Release 5
This release includes 7,462 additional new complex disease participants and 487 new monogenic disease participants, adding to the previous releases from the Complex and Monogenic Networks. The complex disease data (genotypes) now consists of a…
Global Parkinson’s Genetics Program – Code
A centralized github repository for all code associated with the GP2 initative. This will be continually updated with new code as it gets developed.
Multi-ancestry genome-wide meta-analysis in Parkinson’s disease
Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, all studies have been performed in just one population at the time. Here we performed the first large-scale…
The IPDGC/GP2 Hackathon – an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
Open science and collaboration are necessary to facilitate the advancement of Parkinson’s disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and backgrounds to generate resources and…
The non-coding GBA1 rs3115534 variant is associated with REM sleep behavior disorder in Nigerians
Background Damaging coding variants in GBA1 are a genetic risk factor for rapid eye movement sleep behavior disorder (RBD), which is a known early feature of synucleinopathies. Recently, a population-specific non-coding variant (rs3115534) was found…
NeuroBooster Array: A Genome-Wide Genotyping Platform to Study Neurological Disorders Across Diverse Populations
Genome-wide genotyping platforms have the capacity to capture genetic variation across different populations, but there have been disparities in the representation of population-dependent genetic diversity. The motivation for pursuing this endeavor…
Evaluating the performance of polygenic risk profiling across diverse ancestry populations in Parkinson’s disease
Objective This study aims to address disparities in risk prediction by evaluating the performance of polygenic risk score (PRS) models using the 90 risk variants across 78 independent loci previously linked to Parkinson’s disease (PD) risk across…
Global Parkinson’s Genetics Program Data Release 6
This release includes >20,000 additional participants adding to the previous releases from the Complex and Monogenic Networks. The complex disease data (genotypes), including locally-restricted samples, now consists of a total of 44,831…
iSCORE-PD: an isogenic stem cell collection to research Parkinson Disease
A collection of 55 cell lines genetically engineered to harbor mutations in genes associated with monogenic PD were generated using CRISPR/Cas9 and prime editing. This collection offers a valuable platform for studying Parkinson's disease.
Polygenic Parkinson’s Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease
Biallelic pathogenic variants in GBA1 are the cause of Gaucher disease (GD) type 1 (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. Heterozygous GBA1 variants are also a common genetic risk factor for…
RAB32 Ser71Arg in autosomal dominant Parkinson’s disease: linkage, association, and functional analyses
RAB GTPases are regulators and substrates of LRRK2, and variants in the LRRK2 gene are important risk factors for Parkinson's disease. Here, the authors explore genetic variability in RAB GTPases within cases of familial Parkinson's disease.