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  2. Joshua L Bonkowsky, MD, PhD

Professor, Department of Pediatrics
Adjunct Associate Professor, Department of Neurobiology and Anatomy
Adjunct Professor, Department of Neurology

Eccles Primary Children's Outpatient Services Building
81 N Mario Capecchi Dr.
Salt Lake City, UT 84113
contact address
https://healthcare.utah.edu/fad/mddetail.php?physicianID=u0221805&name=...

Biosketch:

Dr. Josh Bonkowsky is a professor of Pediatric Neurology (Pediatrics) at the University of Utah and Director of the Center for Personalized Medicine at Primary Children’s Hospital. 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 and genetic features of leukodystrophies and other neurological disorders, and on developing new therapies. 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 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 zebrafish leukodystrophy models. Besides the basic neurodevelopmental research, his lab is generating disease models for high-throughput drug discovery.

Declared conflicts of interest on file (12/09/2020)

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

Soderholm HE, Chapin AB, Bayrak-Toydemir P, Bonkowsky JL.
Elevated Leukodystrophy Incidence Predicted From Genomics Databases.
Pediatr Neurol. 2020;111:66-69. PubMed abstract / Full Text

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