University of California, San Francisco (UCSF)

Deciphering the Genetic Basis of Parkinson’s Disease by Functional Genomics

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Most of the neurodegenerative diseases associated genetic variations including Alzheimer’s disease (AD) and Parkinson’s diseases (PD) are located in the regulatory regions that don’t code for gene but control gene expression. However, deciphering the roles of regulatory variants in disease pathogenesis remains nontrivial due to lack of annotation for regulatory sequences in the physiologically relevant cell types. Furthermore, regulatory elements often interact with their cognate genes over long genomic distances, precluding a systematic mapping of promoter and regulatory element connectivity. As a result, our ability to derive biological insights from non-coding variants in genome wide association studies (GWAS) has largely been limited. Our goal is to map the epigenomic landscape and 3D chromatin structure in physiologically relevant, constitutive cell types so that we can offer significant advantages in terms of prioritizing causal genetic variants, interpreting their contributions to complex neurological disorders, and discovering novel treatments and biomarkers for improving patient care.