James A. Bartley

James A. Bartley, MD is an Associate Professor in the Pediatric Genetics Division of the School of Medicine at Loma Linda University. With a career spanning several decades, Dr. Bartley has established himself as a prominent researcher in the field of medical genetics with particular expertise in urea cycle disorders, metabolic diseases, and chromosomal abnormalities.

Dr. Bartley's research interests encompass a wide range of topics within pediatric genetics, including neurodevelopmental disorders, genomic rearrangements, and metabolic pathways. His work has significantly contributed to understanding the clinical manifestations and management of urea cycle disorders and other inborn errors of metabolism.

Analysis of his publication history reveals a strong focus on biomarker development for monitoring treatment efficacy in metabolic disorders, particularly regarding ammonia control and hyperammonemic crises. His research has examined urinary phenylacetylglutamine as a dosing biomarker and investigated the relationship between blood ammonia and glutamine levels as predictors of metabolic crises. More recently, his work has expanded to include studies of de novo gene variants associated with neurodevelopmental conditions.

Dr. Bartley has collaborated extensively with researchers across multiple institutions on clinical trials involving glycerol phenylbutyrate for urea cycle disorders and has contributed to understanding the clinical outcomes and management strategies for patients with these rare metabolic conditions.

His research program demonstrates a consistent trajectory from fundamental genetic and cytogenetic studies to applied clinical research aimed at improving outcomes for patients with genetic metabolic disorders.