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.
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.