A triple board-certified specialist in Pediatrics, Clinical Genetics and Genomics, and Medical Biochemical Genetics, he specializes in the diagnosis and management of rare diseases, particularly inherited metabolic disorders (such as mitochondrial disorders and neurometabolic disorders), neurogenetic and skeletal disorders.

His research focuses on advancing the understanding of these conditions through natural history studies, exploring the use of novel technologies, like large language models, to support clinical decision-making in pediatric genetics, and implementing novel therapeutics.