Research

Overview

We conduct diverse and impactful pediatric genetics research at the intersection of clinical genetics, nutrition and neurodevelopment, with a focus on both rare genetic disorders and broader health initiatives. Recent studies have explored the diagnostic and psychosocial implications of genomic sequencing in the NICU and newborn screening for Pompe disease, shedding light on parental experiences and long-term care. 

Investigations into novel de novo variants, including CACNA1G and SPTLC2, have expanded the understanding of rare neurodevelopmental and neuromuscular conditions. We also contributing to medical education through research on plant-based nutrition, examining the perceptions of both medical trainees and their patients to inform future curricular development. 

As part of the University of Louisville School of Medicine Pediatric Research Institute and Norton Children's Research Institute, our faculty and fellows can access cutting-edge research resources with minimal administrative burdens. With over 200 clinical research professionals and 300+ active studies, including Phase 1-3 clinical trials, we are at the forefront of pediatric research and clinical advancements.