Intermountain West Clinical Center for a Childhood Liver Disease Research Network

西山间儿童肝病研究网络临床中心

• 批准号: 8912469
• 负责人: Stephen L Guthery
• 金额: $ 39.37万
• 依托单位: UNIVERSITY OF UTAH
• 依托单位国家: 美国
• 财政年份: 2014
• 资助国家: 美国
• 起止时间: 2014-08-20 至 2019-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8912469
• 关键词: Adolescent; Affect; Algorithms; Alleles; Base Sequence; Bioinformatics; Biological; Biology; Caring; Characteristics; Child; Childhood; Cholestasis; Clinical; Clinical Sciences; Collaborations; Complex; Comprehensive Health Care; Data; Data Analyses; Diagnosis; Diagnostic; Disease; Effectiveness; Enrollment; Etiology; Family; Funding; Future; Gap Junctions; Gene Targeting; Genes; Genetic; Genetic study; Genome; Genomics; Genotype; Goals; Grant; Health; Hepatic; Hepatology; Infant; Inflammation; Knowledge; Lead; Lesion; Liver diseases; Medical Imaging; Medicine; Morbidity - disease rate; Natural History; Nature; Parents; Participant; Pathologist; Pathology; Patients; Pediatric Hospitals; Pediatric Radiology; Pediatric Surgical Procedures; Performance; Phenotype; Population Database; Process; Protocols documentation; Qualifying; Rare Diseases; Recruitment Activity; Research; Research Personnel; Resources; Sampling; Site; Software Tools; Source; Surgeon; Translational Research; Transplantation; United States National Institutes of Health; Universities; Utah; Variant; Work; base; collaborative environment; design; disease phenotype; exome sequencing; experience; gene interaction; genetic disorder diagnosis; genetic pedigree; genome analysis; genome sequencing; improved; innovation; insight; liver injury; liver transplantation; member; mortality; multidisciplinary; proband; radiologist; sample collection; tool

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.

描述（由申请人提供）：我们的目标是在犹他州大学和初级儿童医院建立一个儿童肝病研究网络（ChiLDReN）的山间西部临床中心。几个独特的特点区分我们的网站作为一个合乎逻辑的选择。这些独特的特点包括儿科肝病学，儿科外科，儿科放射学和儿科病理学的成熟团队，他们已经合作超过10年，为肝病儿童提供全面的护理。我们证明，我们的中心有一个大型的招募库的受试者为当前和未来的ChiLDReN协议，并有能力招募和留住这些受试者。对于我们的科学研究计划，独特的特征包括基因组合作的既定联系，我们将为网络提供的创新工具，以及基因组医学现有的强大分析管道。在目标1中，我们将在当前和未来的ChiLDReN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州大学的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管道来识别，表征和分享儿童肝病的遗传原因。我们将为ChiLDReN提供用于基因组分析的创新工具和软件，包括VAAST，一种广泛使用的概率基因查找器; pedigree-VAAST，VAAST的扩展，包含系谱数据; PHEVOR，一种将表型纳入基因组分析的新算法;和Opal，为ChiLDReN的协作基因组解释提供快速，易于使用的分析环境。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。