Julia Barthold, M.D.

Research Interests

The efforts of the Urology Research lab are directed toward identifying the genetic and environmental causes of one of the most common congenital anomalies seen in man, cryptorchidism (undescended testis, UDT). This complex disease is likely the result of gene-environment interaction, and is associated with impaired fertility and risk of testicular cancer. Ongoing studies in our laboratory are focused on the molecular genetics of normal and abnormal testicular descent using a rat model of congenital UDT (the LE/orl rat) and in studies of our large UDT patient population. We are studying the LE/orl rat in order to identify which pathways fail in the pathogenesis of the disease, and to identify the gene mutation(s) that are present in this rat colony. This will allow better understanding of the mechanisms by which genetic mutations and environmental toxins may lead to cryptorchidism. After identifying candidate genes associated with UDT in the rat, we will study these, as well as other previously identified candidates, in humans. We will look for variations in the DNA sequence and expression of these genes in boys with the disease, and will study testis development in order to identify risk factors for impaired testicular germ cell development in cryptorchid patients. Our long-term goal is to identify markers for genetic and environmental causes of UDT that may also be used to identify individuals at risk for infertility and malignancy, and optimize our treatment of this common disease.

Current Projects

  • Linkage analysis of the UDT phenotype in the orl rat
  • Analysis of candidate genes for UDT in human and rat
  • Analysis of gene and protein expression in fetal gubernaculum
  • Development of gene-environment models of UDT in the orl rat

Research Group

  • Kamin Johnson, Ph.D. - Research Scientist
  • Robyn Becker - Senior Research Assistant
  • Alan Robbins - Research Associate

Selected Publications

Other Information

Nemours Education and Research Program

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An Alliance to Foster Biomedical Research Between the Department of Biological Sciences at the University of Delaware and Nemours Biomedical Research at the Alfred I. duPont Hospital for Children/Nemours Children's Clinic

Associate Chief, Division of Urology, A.I. duPont Hospital for Children
Associate Professor of Urology and Pediatrics, Thomas Jefferson University

Phone: (302) 651-5986

Fax: (302) 651-6410

Email: jbarthol@nemours.org

Office: A.I. duPont Hospital for Children

Department of Biomedical Research
A.I. duPont Hospital for Children
Nemours Childrens' Clinic
1600 Rockland Road
Wilmington, DE 19803


  • B.S., M.D. - Northwestern University
  • Postdoctoral - Wayne State University
  • Postdoctoral - Cornell University