Genetic Models of Ocular Disease and Biostatistics

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PROJECT SUMMARY - GENETIC MODELS OF OCULAR DISEASE & BIOSTATISTICS The Genetic Models of Ocular Disease & Biostatistics module (formerly Molecular Genetics and Biostatistics) has been a mainstay providing essential support to NEI-funded PIs at the Casey Eye Institute. The overall goal of this module is to provide support for answering fundamental questions about the genetic mechanisms behind ocular disease. In the past, this core has provided two services: (1) DNA isolation from blood samples, saliva and tissue. Having a dedicated facility for the isolation of DNA ensures maximal DNA yield from patient material and reduces exposure to hazardous biological materials; 2) support for biostatistical analyses, which allows NEI investigators access to the most advanced statistical techniques ensuring that the appropriate methods are used both in the study design phase as well as for data analysis. Projects include analysis of complex gene expression arrays and RNA-seq datasets, large proteomics studies using TMT tags, optical coherence tomography (OCT) and OCT angiography (OCTA), bioinformatics and clinical research studies. While maintaining these two critical services, the Genetic Models of Ocular Disease & Biostatistics core has been expanded to offer two additional resources: (3) genotyping of cell, tissue and biological samples from a variety of species (including human, non- human primates, rat, mouse and pig). Genotyping using the QuantStudio real-time PCR machine and TaqMan chemistry is more cost-effective than traditional Sanger DNA sequencing; and (4) Establishing primary cell cultures from ocular tissues, as well as fibroblasts from patients with ocular disease. In the age of precision medicine, it is important to offer core services that reflect individual variability in genes and identifying gene variants associated with various ocular diseases. Moreover, offering both cell culture and genotyping services allows functional genotype-phenotype studies to be performed. Combined, these four services will enable our researchers to streamline their efforts to identify new molecular pathways involved in disease and should catalyze innovative avenues of ocular research to rapidly translate novel ideas from bench to patient bedside. Continuation of the Genetic Models of Ocular Disease & Biostatistics core will be instrumental in assisting new, as well as established, investigators at OHSU in obtaining NEI funding in the next 5 years.