Clic Logo Clic - Cholestatic Liver Diesase Consortium

CLiC Cholestatic Liver Disease Consortium

Participaiting Clinical Centers

Children's Hospital of Philadelphia

 CHOP Logo

Children's Hospital of Philadelphia Web Site

Contact Information:

David Piccoli, MD
CLiC Site Principal Investigator
E-mail: piccoli@email.chop.edu

Barbara Haber, MD
CLiC Co-Investigator
E-mail: habaer@email.chop.edu

Binita Kamath, MBBChir
CLiC Co-Investigator
E-mail: kamathb@email.chop.edu

Pierre A. Russo, MD
CLiC Pathologist

Nancy Spinner, PhD
CLiC Genetics Core Director
E-mail: spinner@mail.med.upenn.edu

Jessi Erlichman
Study Coordinator
E-mail: Erlichman@email.chop.edu

Rachel Kramer, RD
Study Coordinator
E-mail:  kramerr@email.chop.edu

About Us:

David A. Piccoli, MD, is the Chief of the Division of Gastroenterology and Nutrition at The Children's Hospital of Philadelphia. He is a graduate of Johns Hopkins University and Harvard Medical School. He was a resident and chief resident at The Children's Hospital of Boston, and completed his fellowship training in Gastroenterology and Nutrition at CHOP, where he has been for the past 22 years. He is the Fred and Suzanne Biesecker Professor of Pediatrics at CHOP and the University of Pennsylvania School of Medicine. He is also an Associate Chair of Pediatrics and the Director of the Biesecker Liver Center, which is dedicated to children with liver disease. Dr. Piccoli is a member of the Children's Liver Council of the American Liver Foundation and the President of the Board of Directors of the ALF Delaware Valley Chapter. In 2005 he was appointed to the National Board of the American Liver Foundation. He is a member of the Alagille Syndrome Alliance Scientific Advisory Board.

Useful Links:

CHOP Department of Gastroenterology and Nutrition

Publications:

  1. Witzleben CL, Finegold M, Piccoli DA, Treem WR. Bile canalicular morphometry in arteriohepatic dysplasia. Hepatology 7(6):1262-6, 1987.
  2. Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA. Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies. Am J Human Genetics 55(2):238-43, 1994.
  3. Rand EB, Spinner NB, Piccoli DA, Whitington PF, Taub R. Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. Am J Human Genetics 57(5):1068-73, 1995.
  4. Krantz I, Rand EB, Genin A, Hunt P, Jones M, Louis AA, Graham JM Jr, Bhatt S, Piccoli DA, Spinner NB. Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. Am J Med Genet 70(1):80-6, 1997.
  5. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nature Genetics 16(3):235-42, 1997.
  6. Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB. Alagille syndrome is caused by mutations in human Jagged1 , which encodes a ligand for Notch 1. Nature Genetics 16(3):243-51, 1997.
  7. Choudhry DK, Rehman MA, Schwartz RF, Piccoli DA. The Alagille's syndrome and its anaesthetic considerations. Paediatric Anesthesia 8(1):79-82, 1998.
  8. Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB. Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet 62(6):1361-69, 1998.
  9. Wasserman D, Zemel BS, Mulberg AE, John HA, Emerick KM, Barden EM, Piccoli DA, Stallings VA. Growth, nutritional status, body composition and energy expenditure in prepubertal children with Alagille syndrome. J Pediatrics 134(2):172-7, 1999.
  10. Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 29(3):822-9, 1999.
  11. Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, Goldmuntz E, Spinner NB. Jagged 1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 84(1):56-60, 1999.
  12. Loomes KM, Underkoffler LA, Morabito J, Gottlieb S, Piccoli DA, Spinner NB, Baldwin HS, Oakey RJ: The expression of Jagged1 in the developing mammalian heart correlates with cardiovascular disease in Alagille syndrome. Human Molecular Genetics 8(13):2443-9, 1999.
  13. Colliton RP, Bason L, Lu FM, Genin A, Piccoli DA, Krantz ID, Spinner NB. Mutation in Brief: Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. Hum Mutation 17(2):151-2, 2001.
  14. Kamath BM, Krantz ID, Spinner NB, Heubi JE, Piccoli DA. Phenotypic discordance in monozygotic twins with Alagille syndrome. Am J Med Genet 112(2):194-7, 2002.
  15. Laufer-Cahana A, Krantz ID, Bason L, Lu F-M, Piccoli DA, Spinner NB. Alagille Syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion. Am J Med Genet 112(2):190-3, 2002.
  16. Loomes KM, Taichman DB, Glover CL, Williams PT, Markowitz JE, Piccoli DA, Baldwin HS, Oakey RJ. Characterization of Notch receptor expression in the developing mammalian heart and liver. Am Jour Med Genet, 112(2);181-9, 2002.
  17. Kamath BM , Stolle C, Bason L, Colliton RP, Piccoli DA, Spinner NB, Krantz ID. Craniosynostosis in Alagille Syndrome. Am J Med Genet 112(2):176-80, 2002.
  18. Kamath BM, Loomes KM, Oakey RJ, Emerick KE, Conversano T, Spinner NB, Piccoli DA, Krantz ID. Facial features in Alagille syndrome: specific or cholestasis facies? Am J Med Genet 112(2):163-70, 2002.
  19. Rovner AJ, Schall JI, Jawad AF, Piccoli DA, Stallings VA, Mulberg AE, Zemel BS. Rethinking Growth Failure in Alagille Syndrome: The Role of Dietary Intake and Steatorrhea. Jour Pediatr Gastroent Nutr 35(4):495-502, 2002.
  20. McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation 106(20):2567-74, 2002.
  21. Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1 mutations. J Med Genet 40(12):891-5, 2003.
  22. Kamath BM, Spinner NB, Emerick KM, Chudley AE, Booth C, Piccoli DA, Krantz ID. Vascular anomalies in Alagille syndrome: A significant cause of morbidity and mortality. Circulation 109(11):1354-8, 2004.
  23. Yancey PG, Asztalos BF, Stettler NS, Piccoli D, Williams DL, Connelly MA, Rothblat GH: SR-BI- and ABCA1-mediated cholesterol efflux to serum from patients with Alagille syndrome. J.Lipid Res 45:1724-32, 2004.
  24. Olsen IE, Ittenbach RF, Rovner AJ, Leonard MB, Mulberg AE, Stallings VA, Piccoli DA, Zemel BS. Deficits in size-adjusted bone mass in children with Alagille syndrome. J Pediatr Gastroenterol Nutr 40:76-82, 2005.