NEUROGENOMICS CORE

PROJECT SUMMARY/ABSTRACT – NEUROGENOMICS CORE Neurogenomics research, including analysis of DNA, RNA and the epigenome, consisting of investigation of chromatin and methylation, is increasingly important in studies of intellectual and developmental disabilities (IDDs). For example, neurogenomics analysis can identify the cause of human IDDs as well as determine the mechanism by which genes are regulated in animal or cell-based models. The Neurogenomics (NGEN) Core provides standard and innovative genomic assays that range from genotyping of DNA variants in human subjects through single cell RNA-sequencing or evaluation of accessible chromatin in neural progenitor cells. The NCEI with the NGEN Core will establish spatial transcriptomic technology, making it possible to investigate gene expression in the context of tissue architecture. Further, the NGEN Core provides computational and bioinformatic analysis of large datasets that emerge from next-generation sequencing (NGS) experiments and will train students and postdoctoral fellows. The NGEN core is flexible to relinquish old services that are no longer utilized or cost effective, to implement innovative services that will enhance IDD research and discovery. The team consists of a Director and Associate Director with complementary expertise in human genetics, functional genomics and epigenomics. The Operations Directors have hands-on roles in implementing and establishing new technologies or bioinformatic services that are performed by senior technical staff. The NGEN Core has an advisory committee needed to ensure optimal service and to help decide which services to offer in the Core. The NGEN Core Components are part of established shared facilities at Einstein that also has oversite from the Cancer Center and College. One of the challenges in performing genomics research is how to choose among many different assays that are available. The NGEN Core provides guidance to IDDRC investigators in a prioritized manner, from study design, to experimental optimization to bioinformatic analysis. For this, the Directors meet with individual investigators to provide guidance in helping to choose assays that are best suited for their particular research question. Members of the IDDRC will receive prioritized access to NGEN Core services and personalized consultation. The IDDRC Pilot Award and Voucher program is also available through the ADM Core on a competitive basis, making it possible for investigators to initiate neurogenomics projects even if current grant funding is limited. Through this facilitated availability of a wide range of services and innovative technologies involving critical aspects of genomic analysis, the NGEN core is an essential component of the IDDRC.