About Us

Welcome From Division Chief

The University of Louisville Division of Pediatric Genetics and Genomic Medicine is dedicated to advancing the diagnosis, treatment and understanding of genetic and metabolic disorders through excellence in patient care, research, education and innovation. Our faculty are committed to improving the lives of children and families by combining compassionate clinical care with cutting-edge scientific discovery, helping to shape the future of pediatric precision medicine.

As leaders in pediatric genetics and genomic medicine, we care for patients with a wide spectrum of genetic, metabolic and neurodevelopmental conditions. Our team provides specialized expertise in the diagnosis and management of both common and rare disorders, including Fragile X syndrome, Down syndrome, Williams syndrome, Kabuki syndrome, Rubinstein-Taybi syndrome, Smith-Lemli-Opitz syndrome and numerous inborn errors of metabolism identified through newborn screening. Through a patient-centered and multidisciplinary approach, we strive to deliver individualized care that meets the unique needs of every child and family we serve.

Research is a cornerstone of our mission. Our faculty conduct diverse and impactful investigations at the intersection of clinical genetics, nutrition and neurodevelopment, advancing knowledge in both rare genetic diseases and broader pediatric health initiatives. Recent studies have explored the diagnostic and psychosocial implications of genomic sequencing in the neonatal intensive care unit, providing valuable insights into how families experience genetic testing and navigate complex medical decisions. Additional research has examined newborn screening for Pompe disease, contributing to a greater understanding of long-term patient outcomes and parental perspectives following diagnosis.

Our investigators are also expanding scientific knowledge of rare neurodevelopmental and neuromuscular disorders through the study of novel de novo genetic variants, including CACNA1G and SPTLC2. These discoveries help improve diagnostic precision and create opportunities for future therapeutic advances. Beyond clinical genetics, our faculty contribute to medical education research, examining attitudes toward plant-based nutrition among medical trainees and patients to inform future educational strategies and promote evidence-based approaches to nutrition and health.

At the heart of everything we do is a commitment to improving the lives of children and families through discovery, collaboration and compassionate care. By advancing pediatric precision medicine and expanding our understanding of genetic disease, we are helping create a future in which every child can benefit from more accurate diagnoses, personalized treatments and improved health outcomes.

We invite you to learn more about our programs, connect with our faculty and researchers, and join us in our mission to advance pediatric genetics through excellence in clinical care, education and scientific discovery.