RAB32 Ser71Arg in autosomal dominant Parkinson’s disease: linkage, association, and functional analyses
By savannah onRAB 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.
Polygenic Parkinson’s disease genetic risk score as risk modifier of Parkinsonism in Gaucher disease
By savannah onBiallelic pathogenic variants in GBA1 cause Gaucher disease type 1 (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase, that is associated with increased risk for Parkinson's disease (PD). The objective of this study was to investigate the contribution of PD risk variants to risk for PD in patients with GD1.
Global Parkinson’s Genetics Program data release 6
By Julia Julia Leonard onThis release includes >20,000 additional participants adding to the previous releases from the Complex and Monogenic Networks. The complex disease data now consists of a total of 44,831 genotyped participants. The monogenic disease data now consists of a total of 2,324 sequenced participants.
Evaluating the performance of polygenic risk profiling across diverse ancestry populations in Parkinson’s disease
By savannah onObjective: 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 seven diverse ancestry populations.
NeuroBooster Array: A genome-wide genotyping platform to study neurological disorders across diverse populations
By Devin Della Maggiora onPreprint: People envisage this valuable tool will standardize genetic studies in neurological disorders across different ancestral groups, allowing researchers to perform genetic research inclusively and at a global scale.
The non-coding GBA1 rs3115534 variant is associated with REM sleep behavior disorder in Nigerians
By Devin Della Maggiora onPreprint: The authors studied 709 persons with PD, which show that the non-coding GBA1 rs3115534 risk variant is associated with increased RBD symptomatology in Nigerians with PD. Further research is required to assess association with polysomnography-defined RBD.
Genome-wide association identified novel etiological insights associated with Parkinson’s disease in African and African admixed populations
By savannah onThe authors perform a comprehensive genome-wide assessment of PD in African and African admixed ancestry, characterizing population-specific risk, differential haplotype structure and admixture, coding, structural genetic variation, and polygenic risk profiling. The authors identified a novel common risk factor for PD and age at onset at the GBA1 locus, that was found to be rare in non-African/African admixed populations.
Global Parkinson’s Genetics Program Data Release 5
By savannah onThis 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.
Multi-ancestry genome-wide meta-analysis in Parkinson’s disease
By quincy.tichenor onPublished: The authors performed the first large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases, and 2,458,063 controls, including individuals of European, East Asian, Latin American, and African ancestry. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations. View original preprint.
Black and African American Connections to Parkinson’s Disease Study: Addressing Missing Diversity in Parkinson’s Disease Genetics
By Blythe Lloyd onOp-Ed: This article discusses the GP2 Black and African American Connections to Parkinson's Disease (BLAAC PD) study.
Underrepresented Populations in Parkinson’s Genetics Research: Current Landscape and Future Directions
By taliag onReview: This review provides an overview of research involving PD genetics in under-represented populations, setting a baseline to measure future impact. The authors found a significant lack of population diversity in PD research, highlighting the need for more representation. View original preprint.
The IPDGC/GP2 Hackathon – an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data
By taliag onOp-Ed: The authors outline the projects and results arising from the international ‘hackathon’, which was a 3-day collaborative event between the Global Parkinson’s Genetics Program (GP2) and the International Parkinson’s Disease Genomics Consortium (IPDGC).
Diversity in Parkinson’s disease genetics research: current landscape and future directions
By taliag onThis review provides an overview of research involving PD genetics in under-represented populations, setting a baseline to measure future impact. The authors found a significant lack of population diversity in PD research, highlighting the need for more representation. This is a preprint.
Multi-Modality Machine Learning Predicting Parkinson’s Disease
By taliag onPublished: The authors performed automated machine learning on multi-modal data from PPMI and validated in the PDBP dataset. Further, they built networks to identify gene communities specific to PD. The model they built can improve multi-omic predictions of PD and improves disease risk prediction. View original preprint.
Global Parkinson’s Genetics Program – Code
By Blythe Lloyd onA suite of tools used by GP2 to analyze data.
Mapping the Diverse and Inclusive Future of Parkinson’s Disease Genetics and Its Widespread Impact
By Michelle onReview: This review discuss the need for, inclusion of, and barriers to understudied ancestral groups in PD genetics research. They also provide an overview of PD clinical genetics and describe the future of PD genetics through the lens of collaborative initiatives.
GP2: The Global Parkinson’s Genetics Program
By Michelle onOp-Ed: This article summarizes The Global Parkinson’s Genetics Program (GP2) and outlines its mission, path, deliverables, and principles.
GP2 Celebrates the International Day of Women and Girls in Science
By Michelle onThis blog written by Dr. Sara Bandres-Ciga highlights women in science within the GP2 network.
The Components of GP2’s First Data Release
By Michelle onThis blog written by Hampton Leonard, Dr. Mike Nalls, Yeajin Song, and Dan Vitale describes the first data release from GP2.
Applying for GP2 Data Access on the AMP® PD Platform
By Michelle onThis blog written by Justin C. Solle, Claire Wegel, and Dr. Eline Appelmans outlines how to access GP2 on the AMP PD platform.