Advancing our Understanding of Rare Pediatric Liver Diseases

描述（由申请人提供）： 本申请的总体目标是确保胆道闭锁研究的持续成功 联盟（BARC）和胆汁淤积性肝脏联盟（CLiC）。通过协调努力， 八种胆汁淤积性儿科疾病的调查将在共享公共资源的同时得到推进 包括数据协调中心。国家协作进程已用于以下领域： 获得性免疫缺陷综合征（艾滋病）研究和肿瘤学取得了巨大而迅速的进展 用于诊断和治疗。类似的合作过程将有助于罕见的儿科肝脏 紊乱对于许多这些疾病的发病机制，自然史或最佳治疗方法知之甚少。 治疗策略。许多科学和治疗进展都受到缺乏 需要足够的患者来进行高质量的重要研究。我们建议继续参与国家合作进程，重点是胆道闭锁（BA），肝线粒体软骨病，Alagille综合征（AGS），α-1抗胰蛋白酶缺乏症，进行性家族性肝内胆汁淤积症，胆汁酸合成障碍，囊性纤维化肝病和新生儿肝炎。最终的收益是显而易见的，无论是对个别病人还是在医疗保健方面。

DESCRIPTION (provided by applicant): The overall goal of this application is to ensure the continued success of the Biliary Atresia Research Consortium (BARC) and the Cholestatic Liver Consortium (CLiC). Through a coordinated effort, investigations of eight cholestatic pediatric disorders will be advanced while sharing common resources Including a data coordinating center. National collaborative processes have been used in the area of acquired immuno-deficiency syndrome (AIDS) research and oncology with dramatic and rapid progress made for diagnosis and treatment. A similar collaborative process will be helpful for rare pediatric liver disorders. For many of these diseases little is known about the pathogenesis, natural history or optimal treatment strategies. Much of the scientific and therapeutic progress has been hampered by the lack of sufficient patients needed to carry out quality, significant research. We propose to continue to participate in the national collaborative process focusing on biliary atresia (BA), hepatic mitochondropathies, Alagille syndrome (AGS), alpha-one antitrypsin deficiency, progressive familial intrahepatic cholestasis, bile acid synthetic disorders, cystic fibrosis liver disease and neonatal hepatitis. The ultimate gains are obvious both for individual patients and in terms of health care dollars.