Josh Bonkowsky, MD, PhD

Chief, Division of Pediatric Neurology

Director, Primary Children’s Center for Personalized Medicine

Bray Chair in Neurology Research

Schmidt/Edgar Chair in Pediatric Neurology

Dr. Bonkowsky and his team are deeply committed to the research studies of leukodystrophy. All around the world there is a pressing need for a solution -our ultimate goal is to find an effective therapeutic through our research. We sincerely appreciate all the contribution from our collaborator’s, such as, clinicians, other research institutions, and the financial support we receive from you. Your assistance are invaluable to our work.

Collaborative Efforts

Personalized Medicine

In collaboration between the University of Utah Department of Pediatrics and Primary Children’s Hospital (Intermountain Healthcare), we are leading the Pediatric Center for Personalized Medicine at Primary Children’s Hospital. This center is employing wide-scale clinical use of next generation sequencing to transform the care of infants and children.

Gene Therapy

We are determined to develop new genetic therapies to characterize and treat pediatric neurological conditions. For Zellweger Spectrum Disorders, which are peroxisomal disorders causing leukodystrophy and other organ problem, we are collaborating with Dr. Esther Nuebel from the University of Utah.

For Leukodystrophy with Vanishing White Matter (VWM) disease, we are collaborating with Dr. Allison Bradbury of Nationwide Children’s Hospital.

Our goal is testing and pre-clinical development of therapies that we can translate into patient care.

Leukodystrophies

We are investing the incidence and clinical burden of leukodystrophies. We are using local and national databases and ‘BIG DATA’ approaches to uncover hidden aspects of disease, including risk factors and geographical contributors to disease.

Epilepsy

We started exploring contribution to pediatric epilepsy using retrospective and prospective approaches in large patient cohorts. We are also exploring disparities in patient outcomes due to racial and socioeconomic factors.