A new system designed by CHOP informatics experts seeks to help investigators assemble, access and analyze large amounts of health data - without requiring researchers to become specialized database technicians themselves. Designed by the Department of Biomedical and Health Informatics (DBHi), the toolkit is an open-source, highly interactive framework that is designed to let users to quickly navigate different types and levels of data.
The Krantz lab focuses on identifying molecular etiologies of multisystem developmental diagnoses, structural birth defects, and intellectual disability. Using cellular and animal models, the investigators study newly identified genes towards identification of therapeutic targets. The lab is at the forefront of adapting new genomic technologies to the clinical setting and studying the impact on the clinicians and families involved.