Intermountain West Clinical Center for a Childhood Liver Disease Research Network

描述(由申请者提供)：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。我们的网站有几个独特的特点，是儿童合乎逻辑的选择。这些独特的特点包括来自儿科肝病、儿科外科、儿科放射科和儿科病理学的成熟团队，他们合作了10年，为患有肝病的儿童提供全面的护理。我们证明，我们的中心有大量针对当前和未来儿童方案的招募对象，以及招募和保留这些对象的能力。对于我们的科学研究计划，独一无二的特点包括建立了基因组合作的联系，我们将向网络提供创新的工具，以及现有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计划中招收婴儿、儿童和青少年。目标1的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，我们将使用我们的创新基因组学流水线来识别、表征和分享儿童肝病的遗传原因。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搜索器VAAST；包含系谱数据的VAAST的扩展；将表型纳入基因组分析的新算法Phevor；以及为儿童之间的协作基因组解释提供快速且易于使用的分析环境Opal。作为儿童合作的一员，实现这些目标将带来关于影响儿童的肝病的生物学、自然历史、病因学和治疗的新知识，并改善受这些疾病困扰的患者的诊断和治疗选择。

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.