Intermountain West Clinical Center for a Childhood Liver Disease Research Network

描述（由申请人提供）：我们的目标是在犹他大学和初级儿童医院建立一个儿童肝病研究网络（儿童）的山间西部临床中心。几个独特的特点使我们的场地成为儿童的合理选择。这些独特的特点包括一个由儿科肝病学、儿科外科、儿科放射学和儿科病理学组成的成熟团队，他们在一起工作了100多年，为患有肝病的儿童提供全面的护理。我们证明，我们的中心有一个庞大的招募对象库，为当前和未来的儿童协议，并有能力招募和保留这些受试者。对于我们的科学研究计划，独特的特点包括建立基因组合作关系，我们将为网络提供的创新工具，以及现有的和强大的基因组医学分析管道。在目标1中，我们将在当前和未来的儿童方案中招募婴儿、儿童和青少年。对于目标1，设施和资源包括初级儿童医院和犹他大学临床和转化科学中心。在目标2中，我们将使用我们创新的基因组学管道来识别、表征和分享儿童肝脏疾病的遗传原因。我们将为儿童提供创新的基因组分析工具和软件，包括广泛使用的概率基因查找器VAAST；谱系-VAAST， VAAST的扩展，包含谱系数据；PHEVOR，一种将表型纳入基因组分析的新算法；Opal提供了一个快速和易于使用的分析环境，用于跨儿童的协同基因组解释。作为ChiLDReN的合作成员，实现这些目标将带来有关影响儿童的肝脏疾病的生物学、自然史、病因学和治疗的新知识，并改善患者的诊断和管理选择。

DESCRIPTION (provided by applicant): 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.