Eric Yu, PhD student at McGill University, presents on 'Analysis of heterozygous PRKN variants and copy number variations in Parkinson’s disease' and Sara Bandres Ciga, postdoc from the NIH, discusses 'Genome-wide pathway specific polygenic risk, transcriptomic community networks and functional inferences in Parkinson disease'.

Eric's presentation:
'Biallelic PRKN mutations carriers are known to have earlier age at onset, slower disease progression and different neuropathology compared to sporadic Parkinson’s disease patients. However, heterozygous PRKN carriers have different characteristics and contradicting results regarding the role of heterozygous PRKN mutations in Parkinson’s disease. In this case-controls study including 2,807 patients and 3,627 controls, we found no significant association between rare heterozygous PRKN mutation carrier and risk for Parkinson’s disease.'

Sara’s presentation featured:
'A priority in elucidating Parkinson disease (PD) etiology lies in defining the biological basis of genetic risk. We applied a high-throughput and hypothesis-free approach to determine biological pathways underlying PD using the largest currently available cohorts of genetic and gene expression data. We assessed polygenic risk linked to common variation on PD by focusing on publicly annotated gene sets and evaluate the impact of rare variation in an independent cohort. We create a novel way of building de novo pathways by constructing a network expression community map using transcriptomic data derived from the blood of PD patients. Our analyses highlight several promising pathways and genes for functional prioritization.'