Pediatrics

Dr. Bonkowsky

Dr. Josh Bonkowsky is a professor of Pediatric Neurology (Pediatrics) and of Neurology. His undergraduate training was at Harvard University; he obtained his MD and PhD degrees at the University of California, San Diego, and did his Pediatrics and Neurology/Pediatric Neurology training at the University of Utah and Boston Children's Hospital.

Dr. Bonkowsky is engaged in both clinical and basic science studies. His clinical studies are focused on understanding the clinical features of leukodystrophies, and on the genetics of complex human neurobehavioral traits, especially language impairments. Dr. Bonkowsky's clinical research group is investigating the genetics of leukodystrophies, using both local (Utah Population Database) and national databases, to understand the genetic and medical impacts of these disorders.

Research in the Bonkowsky laboratory investigates human neurogenetic diseases, specifically diseases of basal ganglia function and white matter diseases. His group has developed zebrafish models of human language disorders (the FOXP2 gene); transgenic lines to study basal ganglia development connectivity; and a zebrafish Parkinson's disease model. Besides the basic neurodevelopmental research, his lab is generating disease models for high-throughput drug discovery.

Tina and Savannah Holman

Tina Holman never looks forward to bringing her daughter Savannah to a clinician they haven’t seen before. She knows that, yet again, she’ll need to explain her daughter’s rare condition, vanishing white matter disease, and answer questions about her extensive medical history.

Her family never expected that Savannah would develop a medically complex condition. She hit childhood milestones—talking, walking, running—until age 4, when it became hard for her to stay balanced. By 6 years old, she was in a wheelchair, and at 10 her back started to curve from scoliosis until it was at an 80-degree angle.

Now, Savannah’s back is fused straight. But she still needs a wheelchair, is developmentally delayed, and lacks coordination, making it hard for her to do everyday tasks. That doesn’t stop her. She graduated from high school and every year holds a lemonade stand to support the work of University of Utah pediatric neurologist, Josh Bonkowsky.

Joshua Bonkowsky, MD, with Savannah Holman and her mother Tina

“Hi, my name is Savannah Holman and every year I raise money to support Dr. Bonkowsky’s research. We believe in Dr. B’s research so much because it gives us hope, not just for MY future, but also for other people like me. Last year I raised $1255 and an anonymous donor has agreed to match raise dollar for dollar every dollar I raise THIS year. Help me raise even more!!”