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Principal Investigator  
Principal Investigator's Name: Cynthia Sandor
Institution: University of Cardiff
Department: UK Dementia Research Institute
Country:
Proposed Analysis: Recently we proposed an approach to quantify the clinical variation in large deeply clinically phenotyped cohorts of patients. This method initially developed to impute missing observations in cohorts with multiple phenotypes (Dahl, 2017) uses a multiple phenotype mixed model (MPMM) to perform genetically-guided dimensionality reduction of multiple traits and is able to detect a smaller number of continuous traits that underlie a larger number of clinically observed phenotypes. By applying this approach to deeply phenotyped cohorts of patients affected by Parkinson’s disease (PD), we identified 3 principal axes of patient phenotypic variation which are reproducibly re-identified in 3 independent, deeply and diversely phenotyped UK & US PD cohorts (PPMI). These 3 axes explain ~79% of the Parkinson's clinical variation and remain robustly captured with a fraction of the clinically-recorded features. These results were reviewed by funders Michael J Fox Foundation (MJFF), manuscript submitted. The aim of this project to apply our method to another neurodegenerative disorder Alzheimer disease (AD) and to compare the pathway underlying the disease trajectories in PD and AD.
Additional Investigators  
Investigator's Name: Nabila Rahman
Proposed Analysis: Dr Nabila Rahman is a member of my lab and she will work on the same project than me