Projects


Trios, a new GEoPD project Aims: To study the heritability in Parkinson’s disease. Introduction: Whole-exome sequencing (WES) technology has been used successfully to ﬁnd mutations in large families. A recent study identified 92 putative independent genome-wide significant signals including 53 at previously published loci. By adding more samples to such studies, even more loci will be added to the list risk locations. However, we still do not know whether these mutations must have arisen de novo in each offspring or if the mutations have been inherited from their parents. The trio technique can be used to offer more insight into the pathogenesis of Parkinson’s disease. Because of the late onset of the disease, only small families and unrelated patients are usually available. Material: Blood or DNA from an affected PD patient and from both biological parents. We will ask GEOPD members to send trios to one central lab. Total number of trios > 100. Methods: Whole genome sequencing. Inclusion period: 010619 to 311219. Publication: 2020. Those who want to contribute to the project, please contact: Jan O. Aasly, MD, Ph.D
MSA Alliance Investigators: Matthew Farrer, Joseph Juhn, Beom Jeon, Shoji Tsuji
Synuclein Multiplication Collaboration Investigators: Matthew Farrer, Nobutaka Hattori, Beom Jeon, Alexis Brice A worldwide effort to identify individuals and families with Lewy body disease and SNCA copy number mutations.
Monogenic-PD Investigators: Katerina Markopoulou A genotype-phenotype correlation study of monogenic forms of parkinsonism including LRRK2, PINK1, Parkin etc.
LONG-PD Investigators: Manu Sharma, Rejko Krüger, Alexis Elbaz GEO-PD includes 20 sites from 14 countries and 4 continents who have committed to collect and share DNAs and clinical data longitudinally for 15 years, for 3,000 Parkinson's disease cases.
Courage PD Investigators: Manu Sharma, Rejko Krüger, Alexis Elbaz International collaboration between many sites with funding form the Joint Program on Neurodegenerative Disease (JPND). The project includes whole genome sequencing, custom array genotyping and focuses on genetic and environmental variables using a Mendelian randomization approach.
RVCD Investigators: Matthew Farrer The RVCD sequencing and genotyping project aims to identify rare variants segregating in Mendelian forms of Parkinson’s disease.