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.

Agency
National Institute of Health (NIH)
Institute
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Type
Research Project--Cooperative Agreements (U01)
Project #
5U01DK062481-11
Application #
8327874
Study Section
Special Emphasis Panel (ZDK1-GRB-S (M1))
Program Officer
Sherker, Averell H
Project Start
2002-09-01
Project End
2014-05-31
Budget Start
2012-06-01
Budget End
2013-05-31
Support Year
11
Fiscal Year
2012
Total Cost
$373,500
Indirect Cost
$166,913
Name
Children's Hospital of Philadelphia
Department
Type
DUNS #
073757627
City
Philadelphia
State
PA
Country
United States
Zip Code
19104
Leonard, Laura D; Chao, Grace; Baker, Alastair et al. (2014) Clinical utility gene card for: Alagille Syndrome (ALGS). Eur J Hum Genet 22:
Ng, Vicky Lee; Haber, Barbara H; Magee, John C et al. (2014) Medical status of 219 children with biliary atresia surviving long-term with their native livers: results from a North American multicenter consortium. J Pediatr 165:539-546.e2
Tsai, Ellen A; Grochowski, Christopher M; Loomes, Kathleen M et al. (2014) Replication of a GWAS signal in a Caucasian population implicates ADD3 in susceptibility to biliary atresia. Hum Genet 133:235-43
Lin, Henry; Zoll, Bryan; Russo, Pierre et al. (2014) A challenging Case of Focal Extrahepatic Duct Obstruction/Hypoplasia in Alagille Syndrome. J Pediatr Gastroenterol Nutr :
Bezerra, Jorge A; Spino, Cathie; Magee, John C et al. (2014) Use of corticosteroids after hepatoportoenterostomy for bile drainage in infants with biliary atresia: the START randomized clinical trial. JAMA 311:1750-9
Sundaram, Shikha S; Alonso, Estella M; Haber, Barbara et al. (2013) Health related quality of life in patients with biliary atresia surviving with their native liver. J Pediatr 163:1052-7.e2
Penton, Andrea L; Leonard, Laura D; Spinner, Nancy B (2012) Notch signaling in human development and disease. Semin Cell Dev Biol 23:450-7
Superina, Riccardo; Magee, John C; Brandt, Mary L et al. (2011) The anatomic pattern of biliary atresia identified at time of Kasai hepatoportoenterostomy and early postoperative clearance of jaundice are significant predictors of transplant-free survival. Ann Surg 254:577-85
Russo, Pierre; Magee, John C; Boitnott, John et al. (2011) Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy. Clin Gastroenterol Hepatol 9:357-362.e2
Leyva-Vega, Melissa; Gerfen, Jennifer; Thiel, Brian D et al. (2010) Genomic alterations in biliary atresia suggest region of potential disease susceptibility in 2q37.3. Am J Med Genet A 152A:886-95

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