Our goal is to establish an Intermountain West Clinical Center for the Childhood Liver Disease Research Network (ChiLDReN) at the University of Utah and Primary Children's Hospital. Several unique characteristics distinguish our site as a logical choice for ChiLDReN. These unique characteristics include an established team from pediatric hepatology, pediatric surgery, pediatric radiology, and pediatric pathology that have worked together for >10 years to provide comprehensive care to children with liver disease. We demonstrate that our Center has a large recruitment pool of subjects for current and future ChiLDReN protocols, and the ability to recruit and retain those subjects. For our Scientific Research Plan, unique characteristics include an established nexus for genomic collaborations, innovative tools we will make available to the network, and an existing and robust analytical pipeline for genomic medicine.
In Aim 1, we will enroll infants, children, and adolescents in current and future ChiLDReN protocols.
For Aim 1, facilities and resources include Primary Children's Hospital and the University of Utah's Center for Clinical and Translational Science.
In Aim 2, we will use our innovative genomics pipeline to identify, characterize, and share the genetic causes of liver disease in children. We will provide ChiLDReN with innovative tools and software for genome analysis, including VAAST, a probabilistic gene-finder used widely;pedigree-VAAST, an extension of VAAST that incorporates pedigree data;PHEVOR, a new algorithm for incorporating phenotypes into genome analyses;and Opal, which provides a fast and easy-to-use analysis environment for collaborative genome interpretation across ChiLDReN. Accomplishing these aims as a collaborative member of ChiLDReN will lead to new knowledge regarding the biology, natural history, etiology, and therapy of liver diseases that affect children, and improve the diagnostic and management options for patients afflicted with them.

Public Health Relevance

Liver disease is a significant source morbidity and mortality in infants and children. Because these diseases are rare, a multicenter collaborative network is necessary to accrue sufficient number of children to understand the causes and natural histories of rare liver diseases and develop new therapies to treat them. Our goal is to establish an Intermountain West Clinical Center for the Childhood Liver Disease Research Network (ChiLDReN) at the University of Utah and Primary Children's Hospital. We will also use the University of Utah's internationally recognized expertise in genomics to study the genetics of childhood-onset liver disease.

National Institute of Health (NIH)
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Research Project--Cooperative Agreements (U01)
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Special Emphasis Panel (ZDK1-GRB-7 (M1))
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Sherker, Averell H
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University of Utah
Schools of Medicine
Salt Lake City
United States
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Ng, Vicky L; Sorensen, Lisa G; Alonso, Estella M et al. (2018) Neurodevelopmental Outcome of Young Children with Biliary Atresia and Native Liver: Results from the ChiLDReN Study. J Pediatr 196:139-147.e3
Alonso, Estella M; Ye, Wen; Hawthorne, Kieran et al. (2018) Impact of Steroid Therapy on Early Growth in Infants with Biliary Atresia: The Multicenter Steroids in Biliary Atresia Randomized Trial. J Pediatr 202:179-185.e4
Shneider, Benjamin L; Moore, Jeff; Kerkar, Nanda et al. (2017) Initial assessment of the infant with neonatal cholestasis-Is this biliary atresia? PLoS One 12:e0176275
Shneider, Benjamin L; Magee, John C; Karpen, Saul J et al. (2016) Total Serum Bilirubin within 3 Months of Hepatoportoenterostomy Predicts Short-Term Outcomes in Biliary Atresia. J Pediatr 170:211-7.e1-2
Russo, Pierre; Magee, John C; Anders, Robert A et al. (2016) Key Histopathologic Features of Liver Biopsies That Distinguish Biliary Atresia From Other Causes of Infantile Cholestasis and Their Correlation With Outcome: A Multicenter Study. Am J Surg Pathol 40:1601-1615