Advancing our Understanding of Rare Pediatric Liver Diseases

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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.