Josh Bonkowsky

Dr. Josh Bonkowsky is a Professor of Pediatric Neurology at the University of Utah School of Medicine, where he serves as Chief of the Division of Pediatric Neurology and Director of the Primary Children's Center for Pediatric Personalized Medicine. His research program focuses on understanding the function of human disease genes in central nervous system development and neurodevelopmental disorders.

Dr. Bonkowsky's educational background includes:

• B.A. from Harvard University
• M.D./Ph.D. from University of California, San Diego

His research centers on three primary areas: (1) developmental functions of human disease genes in leukodystrophies like Vanishing White Matter Disease; (2) effects of hypoxia on CNS development and connectivity; and (3) genomic medicine applications, big data analytics, and novel therapeutics including gene therapy. His laboratory extensively utilizes zebrafish models to investigate disease mechanisms and develop potential treatments for pediatric neurological disorders.

Analysis of Dr. Bonkowsky's publication record shows a strong emphasis on leukodystrophies, particularly Vanishing White Matter Disease and X-linked Adrenoleukodystrophy. His research spans from basic molecular mechanisms to clinical applications, with increasing focus on genomic medicine approaches and therapeutic development. Recent work demonstrates his commitment to translating discoveries into potential treatments through gene therapy projects and novel therapeutic approaches.

Dr. Bonkowsky leads significant initiatives including the Utah NeoSeq Project for genomic diagnostics in neonatal care and contributes to developing core protocols for clinical trials in leukodystrophies. His work has examined healthcare disparities in leukodystrophy diagnosis and management, revealing important patterns related to race, ethnicity, and geographic location that impact patient care.