Joshua Bonkowsky, MD, Ph.D.

Assistant Professor, Department of Pediatrics
Adjunct Assistant Professor, Department of Neurobiology and Anatomy

Division of Pediatric Neurology
University of Utah School of Medicine/Primary Children's Medical Center
100 N Mario Capecchi Dr.
Salt Lake City, UT 84113
contact address
http://healthcare.utah.edu/fad/mddetail.php?physicianID=u0221805

Biosketch:

Dr. Josh Bonkowsky is an assistant 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.

Selected Bibliography:

Van Haren K, Bonkowsky JL, Bernard G, Murphy JL, Pizzino A, Helman G, Suhr D, Waggoner J, Hobson D, Vanderver A, Patterson MC.
Consensus statement on preventive and symptomatic care of leukodystrophy patients.
Mol Genet Metab. 2015;114(4):516-526. PubMed abstract

Bonkowsky JL, Ramaekers VT, Quadros EV, Lloyd M.
Progressive encephalopathy in a child with cerebral folate deficiency syndrome.
J Child Neurol. 2008;23(12):1460-3. PubMed abstract

Gordon HB, Letsou A, Bonkowsky JL.
The leukodystrophies.
Semin Neurol. 2014;34(3):312-20. PubMed abstract / Full Text

Berry JG, Poduri A, Bonkowsky JL, Zhou J, Graham DA, Welch C, Putney H, Srivastava R.
Trends in resource utilization by children with neurological impairment in the United States inpatient health care system: a repeat cross-sectional study.
PLoS Med. 2012;9(1):e1001158. PubMed abstract / Full Text

Helman G, Van Haren K, Bonkowsky JL, Bernard G, Pizzino A, Braverman N, Suhr D, Patterson MC, Ali Fatemi S, Leonard J, van der Knaap MS, Back SA, Damiani S, Goldman SA, Takanohashi A, Petryniak M, Rowitch D, Messing A, Wrabetz L, Schiffmann R, Eichler F, Escolar ML, Vanderver A.
Disease specific therapies in leukodystrophies and leukoencephalopathies.
Mol Genet Metab. 2015;114(4):527-536. PubMed abstract