Advancing our Understanding of Rare Pediatric Liver Diseases

描述(由申请人提供)： 该应用程序的总体目标是确保胆道闭锁研究的持续成功 BARC财团和胆汁淤积性肝财团(CLIC)。通过协调努力， 在共享资源的同时，将推进对8种胆汁淤积性儿科疾病的研究 包括数据协调中心。在以下领域使用了国家协作进程 获得性免疫缺陷综合征(AIDS)研究和肿瘤学取得重大进展 为诊断和治疗而制造的。类似的协作过程将有助于罕见的儿科肝脏 精神错乱。对于这些疾病中的许多，人们对其发病机制、自然病史或最佳状态知之甚少。 治疗策略。许多科学和治疗进展因缺乏药物而受到阻碍 足够多的患者需要进行高质量、有意义的研究。我们建议继续参与以胆道闭锁(BA)、肝脏线粒体软骨病、Alagille综合征(AGS)、α-1抗胰酶缺乏、进行性家族性肝内胆汁淤积症、胆汁酸合成障碍、囊性纤维性肝病和新生儿肝炎为重点的国家协作进程。最终的收益是显而易见的，无论是对个别患者来说，还是在医疗保健资金方面。

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.