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CLiC Cholestatic Liver Disease Consortium |
Children's Hospital of Pittsburgh |
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Children's Hospital of Pittsburgh Web Site
Contact Information:
Benjamin Shneider, MD
CLiC Site Principal Investigator
E-mail: benjamin.shneider@mssm.edu
David Perlmutter, MD
CLiC Co-Investigator
E-mail: perldav@chplink.chp.edu
Robert Squires Jr., MD
CLiC Co-Investigator
E-mail: robert.squires@chp.edu
Gerard Vockley MD, PhD
Co-Investigator
Ronald Jaffe, MBBCh
CLiC Co-Investigator
E-mail: robert.squires@chp.edu
Beverly Bernard, CRNP
CLiC Study Coordinator
About Us:
Benjamin Shneider, MD
Dr. Shneider's clinical interests and areas of specialized expertise include cholestatic liver disease, fulminant hepatic failure, and autoimmune liver disease in children.
Dr. Shneider earned his B.S. in Chemistry at Stanford University and his M.D. at the University of Chicago. He went on to complete both his internship and residency in Pediatrics at The Children's Hospital in Boston followed by a fellowship in Pediatric Gastroenterology at Yale University. He is currently Professor of Pediatrics and Chief of the Division of Pediatric Hepatology at the Mount Sinais School of Medicine. Among his many honors are the Physician Scientist Award in 1992, the Young Investigator Award from the North American Society for Pediatric Gastroenterology and Nutrition in 1994, The Basil O'Connor Starter Scholar Research Award from the March of Dimes in 1995 and membership in the American Society of Clinical Investigators in 2005.
Among Dr. Shnieder's many society memberships are the American Association for the Study of Liver Diseases since 1989, the American Gastroenterological Association since 1989 and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition since 1994. He is a regular member of the NIDDK-C study section for The National Institutes of Health, and on the advisory board for the Wilson's Disease Association, The Morgan Foundation and the Greater New York Chapter of the American Liver Foundation.
Dr. Shneider is the principal investigator for NIH-funded multi-center investigations of acute liver failure and biliary atresia. He is actively involved in collaborative efforts to understand the molecular basis of pediatric liver disease including NIH funding for assessing the mechanisms of PFIC1. Dr. Shneider's basic research interests are focused on the regulation of intestinal bile acid transport, including changes that occur in normal development, in response to intestinal injury and inflammation, and in response to changes in bile flow. These studies are directly relevant to a variety of common pediatric disorders including cholestasis, prematurity, inflammatory bowel disease, and short-gut/necrotizing enterocolitis.
David H. Permutter, MD
David H. Permutter, MD is the Vira I Heinz Professor and Chair of the Department of Pediatrics at the University of Pittsburgh School of Medicine. He is also Professor of Cell Biology and Physiology at the University and Physician-in-Chief and Scientific Director of Children's Hospital of Pittsburgh. Dr. Perlmutter earned his BA from the University of Rochester and his MD from St. Louis University School of Medicine. He trained in Pediatrics at Children's Hospital of Philadelphia and in Pediatric Gastroenterology and Nutrition at Children's Hospital, Boston. After several years on the faculty of Harvard Medical School he joined the faculty at Washington University School of Medicine and St. Louis Children's Hospital. From 1992-2001 Dr. Perlmutter was the Director of the Division of Gastroenterology and Nutrition at St. Louis Children's and in 1996 he became the first to hold the Donald Strominger Endowed Professorship of Washington University School of Medicine. In 2001 he left St. Louis to take his current position in Pittsburgh.
Dr. Perlmutter has carried out basic research on alpha-1-antitrypsin deficiency for over 20 years. His work has led to many new concepts about the pathobiology of liver disease in this deficiency and has suggested several new concepts for chemoprophylaxis of chronic liver injury, hepatocellular carcinoma and emphysema in this genetic disease. Dr. Perlmutter's research has been recognized by numerous awards including the E Mead Johnson Award for Research in Pediatrics. He is a member of the American Society for Clinical Investigation and the Association of American Physicians. He has served as the President of the Society of Pediatric Research and on numerous advisory boards, foundation boards and editorial boards.
Useful Links:
Children's Hospital of Pittsburgh Gastroenterology Department
Children's Hospital of Pittsburgh Liver Clinic
Children's Hospital of Pittsburgh: Liver Disorders
Publications:
Perlmutter DH, Schlesinger MJ, Pierce JA, Punsal PI, Schwartz AL. Synthesis of stress proteins is increased in individuals with homozygous PiZZ a 1-antitrypsin deficiency and liver disease. J Clin Invest 1989;84:1555-1561.
Wu Y, Whitman I, Molmenti E, Moore K, Hippenmeyer P, Perlmutter DH. A lag in intracellular degradation of mutant a 1-antitrypsin correlates with liver disease phenotype in homozygous PiZZ a 1-antitrypsin deficiency. Proc Natl Acad Sci USA 1994;91:9014-9018.
Teckman JH, Perlmutter DH. The endoplasmic reticulum degradation pathway for mutant secretory proteins a 1-antitrypsin Z and S is distinct from that for an unassembled membrane protein. J Biol Chem 1996;271:13215-13220.
Qu D, Teckman JH, Omura S, Perlmutter, DH. Degradation of a mutant secretory protein, a 1-antitrypsin Z, in the endoplasmic reticulum requires proteasome activity. J Biol Chem 1996;271:22791-22795.
Burrows JAJ, Willis LK, Perlmutter DH. Chemical chaperones mediate increased secretion of mutant a 1-antitrypsin ( a 1-AT) Z. A potential pharmacological strategy for prevention of liver injury and emphysema in a 1-AT deficiency. Proc Natl Acad Sci USA 2000;97:1796-1801.
Teckman JH, Perlmutter DH. Retention of mutant alpha-1-antitrypsin Z in endoplasmic reticulum is associated with an autophagic response. Am J Physiol 2000;279:G961-G974.
Lin L, Schmidt B, Teckman J, Perlmutter DH. A naturally occurring nonpolymerogenic mutant of a1-Antitrypsin characterized by prolonged retention in the endoplasmic reticulum. J Biol Chem 2001; 276: 33893-33898.
Teckman JH, Burrows J, Hidvegi T, Schmidt B, Hale PD, Perlmutter DH. The proteasome participates in degradation of mutant a1-antitrypsin Z in the endoplasmic reticulum of hepatoma-derived hepatocytes. J Biol Chem 2001; 276: 44865-44872.
Teckman JH, An J-K, Loethen S, Perlmutter DH. Fasting in alpha-1-antitrypsin deficient liver: Constitutive activation of the autophagy. Am J Physiol 2002; 283: G1156-G1165.
Teckman JH, An J-K, Blomenkamp K, Schmidt B, Perlmutter DH. Mitochondrial autophagy and injury in the liver in alpha-1-antitrypsin deficiency. Am J Physiol 2004;286:G851-G862.
Rudnick DA, Liou Y, An J-K, Muglia LJ, Perlmutter DH, Teckman JH. Analyses of hepatocellular proliferation in a mouse model of alpha-1-antitrypsin deficiency. Hepatology 2004; 39: 1048-1055.
Perlmutter DH. Liver injury in a 1-antitrypsin deficiency: An aggregated protein induces mitochondrial injury. J Clin Invest 2002;110:1579-1583.
Perlmutter DH. Alpha-1-Antitrypsin Deficiency: A new paradigm for hepatocellular carcinoma in chronic liver disease. Hepatology (in press).
Setchell KDR, Heubi JE, bove KE, O'Connell NC, Brewsaugh T, Steinberg SJ, Moser A. Squires RH. Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and ffect of bile acid therapy. Gastroenterology 2003;124:217-232.
Shneider B, Rinaldo P, Emre S, Bucuvalas J, Squires R, Narkewicz M, Gondolesi G, Magid M, Morotti R, Hynan L, and the Pediatric acute Liver Failure Study group. Abnormal concentrations of eserfied carnitine in bile: A feature of pediatric acute liver failure with poor prognosis. Hepatology 2005;41(4);717-721.
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