Perelman School of Medicine at the University of Pennsylvania

Joan O'Brien Lab

Ocular Genetics Lab of Joan O'Brien, MD


Welcome to the Ocular Genetics Laboratory of Joan O’Brien, MD at the Scheie Eye Institute.  Our research team has extensive experience studying the genetics of retinoblastoma, uveal melanoma, and glaucoma.  Our laboratory facilities include next-generation sequencing and high-throughput, automated Sanger sequencing capabilities, allowing us to conduct high-impact translational genetics research. We have specific expertise in molecular sub-classification and endophenotyping of ocular disease. 

Previously, our team identified numerous variants in the retinoblastoma gene, allowing us to offer genetic testing to retinoblastoma patients through the eyeGENE™ initiative. 

 

Today, we are conducting a large-scale genetic analysis on African Americans with primary open-angle glaucoma.