Childhood Liver Disease Research Network (ChiLDReN) - UCSF (CC)

儿童肝病研究网络 (ChiLDReN) - UCSF (CC)

• 批准号: 10634645
• 负责人: PHILIP ROSENTHAL
• 金额: $ 13万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
• 依托单位国家: 美国
• 财政年份: 2002
• 资助国家: 美国
• 起止时间: 2002-09-15 至 2024-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10634645
• 关键词: Alagille Syndrome; Ancillary Study; Biliary Atresia; California; Caring; Cause of Death; Child; Childhood; Cholestasis; Chronic; Clinic; Collaborations; Communities; Cross-Over Studies; Cystic Fibrosis; Data; Education; Etiology; Genes; Genetic; Hospitals; Industry; Liver diseases; London; Medical; Naloxone; New Agents; Patients; Pediatric Hospitals; Pediatric Surgical Procedures; Phase; Pruritus; Public Health; Publications; Research; Research Personnel; Rifampin; San Francisco; Site; Support Groups; Technology; United States; Ursodeoxycholic Acid; Validation; alpha 1-Antitrypsin Deficiency; children with cystic fibrosis; cohort; college; cost effective; imaging modality; liver transplantation; longitudinal, prospective study; novel diagnostics; patient advocacy group; programs; rare condition; translational study; web site

Project Summary/Abstract UCSF is currently one of the ten original sites of the Childhood Liver Disease Research and Education Network (ChiLDREN) now referred to as the Childhood Liver Disease Research Network (ChiLDReN). The specific objectives of the ChiLDReN include but are not limited to: 1) Continuation of the ChiLDReN prospective longitudinal studies of children to continue to provide data and biospecimens for ancillary studies aimed at discovering new diagnostics, etiologic and treatment options for children both pre and post liver transplantation.2) Identification and validation of non-invasive markers of liver disease in our ChiLDReN patients including but not limited to new imaging modalities with the FORCE fibroscan machine. 3) Phase I/II study of new agents to treat cholestasis in children. 4) Study of modifier genes in Alagille Syndrome and Alpha- 1-antitrypsin deficiency 5) Expansion to include other diseases of cholestasis in children with industry and patient advocacy group support. 6) Continue to provide support for small pilot and demonstration projects within the Network.7) Continue to provide education about pediatric liver diseases to the scientific and lay communities through publications and the website.

项目总结/摘要 加州大学旧金山分校目前是儿童肝病研究和教育的十个原始网站之一 网络（ChiLDREN）现在被称为儿童肝病研究网络（ChiLDReN）。的 ChiLDReN的具体目标包括但不限于：1）延续ChiLDReN 儿童前瞻性纵向研究，继续为辅助研究提供数据和生物标本 旨在为肝移植前后的儿童发现新的诊断、病因学和治疗选择， 2）在我们的ChiLDReN中识别和验证肝脏疾病的非侵入性标志物。 患者，包括但不限于使用FORCE fibroscan机器的新成像模式。3)i/ii期 治疗儿童胆汁淤积症新药研究4)Alagille综合征和α-SMA的修饰基因研究 1-5）扩大范围，包括工业和家庭儿童中的其他胆汁淤积疾病， 支持患者权益团体6)继续为小型试点和示范项目提供支持 7）继续向科学界和非专业人士提供有关儿科肝病的教育 社区通过出版物和网站。

项目成果

Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

• DOI: 10.1016/j.jhep.2016.07.017
• 发表时间: 2016-12
• 期刊: Journal of hepatology
• 影响因子: 25.7
• 作者: Grammatikopoulos T;Sambrotta M;Strautnieks S;Foskett P;Knisely AS;Wagner B;Deheragoda M;Starling C;Mieli-Vergani G;Smith J;University of Washington Center for Mendelian Genomics;Bull L;Thompson RJ
• 通讯作者: Thompson RJ

Initial assessment of the infant with neonatal cholestasis-Is this biliary atresia?

• DOI: 10.1371/journal.pone.0176275
• 发表时间: 2017
• 期刊: PloS one
• 影响因子: 3.7
• 作者: Shneider BL;Moore J;Kerkar N;Magee JC;Ye W;Karpen SJ;Kamath BM;Molleston JP;Bezerra JA;Murray KF;Loomes KM;Whitington PF;Rosenthal P;Squires RH;Guthery SL;Arnon R;Schwarz KB;Turmelle YP;Sherker AH;Sokol RJ;Childhood Liver Disease Research Network
• 通讯作者: Childhood Liver Disease Research Network

Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.

• DOI: 10.1002/humu.22786
• 发表时间: 2015-06
• 期刊: HUMAN MUTATION
• 影响因子: 3.9
• 作者: Tsai, Ellen A.;Grochowski, Christopher M.;Falsey, Alexandra M.;Rajagopalan, Ramakrishnan;Wendel, Danielle;Devoto, Marcella;Krantz, Ian D.;Loomes, Kathleen M.;Spinner, Nancy B.
• 通讯作者: Spinner, Nancy B.