Developmental Genomics Center

The Developmental Genomics Center at UVA will bridge developmental biologists with genomic and clinical translational scientists across grounds, and with nearby Inova Health System and the NIH NICHD. The Center aims to integrate genomic technologies and next-generation sequencing datasets from human and animal model systems to address cutting-edge research questions in cell and developmental biology.

A major goal of the Center is to analyze genetic data from pediatric patients with diverse developmental defects (i.e. vascular, neural, skeletal, cardiac). This translational pipeline aims to:

• Identify genetic mutations using advanced bioinformatic analyses
• Collaborate with developmental biologists using human stem cell and animal models to determine the mechanisms of underlying developmental defects
• Design potential therapeutic interventions for pediatric patients in a clinical setting

In parallel, we will further delineate the regulators of normal developmental processes, which is fundamental to understanding genetic defects that cause errors in development. We will apply high throughput approaches both at a cellular and genomics level to decode developmental mechanisms in animal and human stem cell models, enabling us to better identify mutations in the genes that regulate these processes in human patients with developmental defects.

We will undertake research projects in a collaborative environment and provide bioinformatics support for team members addressing common goals. The framework of the Developmental Genomics Center, including a combination of high throughput wet-lab studies, bioinformatics analysis and experimental validation, is necessary to make discoveries that could lead to translational studies and clinical therapies for pathological conditions.

Resources available to Developmental Genomics Center members will include:

• Access to longitudinal patient cohort of >5,000 families, including >1,400 WGS, RNA-Seq, miRNA-Seq, and DNA methylation datasets
• Dedicated server for computational analyses integrated with UVA Research Computing
• Leica SP8 Confocal Microscope with DLS
• BD Biosciences FACSMelody Cell Sorter