Clinical trials

The goal of this study is to prospectively assess the diagnostic agreement of PEM fellow-performed cardiac POCUS and of AI-assisted interpretation using the Exo Iris probe, as compared to a complete echocardiography for detecting left ventricular (LV) systolic dysfunction and pericardial effusion in children with preexisting cardiac disease.

The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiology by understanding the potential value of Whole Genome Sequencing (WGS) in establishing genetic diagnosis. The study will examine diagnosis rates, changes in clinical care as a result of a genetic diagnosis, health economics including potential cost-effectiveness of WGS and patient and provider experience with genomic medicine.