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Arnold W. Strauss, MD BK Rachford Professor and Chair, Department of Pediatrics, University of Cincinnati College of Medicine
BK Rachford Professor and Chair, Department of Pediatrics, University of Cincinnati College of Medicine
Director, Cincinnati Children's Research Foundation
Chief Medical Officer, Cincinnati Children's Hospital Medical Center
Professor, UC Department of Pediatrics
Arnold Strauss, MD, joined Cincinnati Children's in April, 2007, as chairman of the Department of Pediatrics at the UC College of Medicine, chief medical officer of Cincinnati Children's and director of the Cincinnati Children's Research Foundation. He is the seventh B.K. Rachford Memorial Chair in Pediatrics.
Dr. Strauss is a distinguished pediatric cardiologist, scientist, educator and leader. Prior to his arrival at Cincinnati Children's, he was the chairman of the Department of Pediatrics at the Vanderbilt University School of Medicine and medical director of the Monroe Carell Jr. Children's Hospital at Vanderbilt, a position he held from 2000 to 2007. Under his leadership, the university built and opened a new hospital for children, expanded its pediatric faculty and increased grant funding for pediatric research. From 1981 to 2000, Strauss was director of the Division of Pediatric Cardiology at Washington University/St. Louis Children's Hospital.
A respected scientist, Dr. Strauss' research focuses on understanding the molecular basis of disorders of mitochondrial fatty acid oxidation and the genetic causes of congenital heart disease and cardiomyopathies. He is the recipient of two of the most prestigious awards in research. In November 2006 he was awarded the American Heart Association's Basic Science Research Award for groundbreaking work that led to finding genetic defects that can cause heart failure and sudden death in infants and children. In 1991 he received the E. Mead Johnson Award for Excellence in Pediatric Research.
Liebig M, Schymik I, Mueller M, Wendel U, Mayatepek E, Ruiter J, Strauss AW, Wanders RJ, Spiekerkoetter U. (2006) Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics 118:1065-9.
Khuchua Z, Yue Z, Batts L, Strauss AW. (2006) A zebrafish model of human Barth syndrome reveals the essential role of tafazzin in cardiac development and function. Circ Res 99:201-8.
Exil VJ, Gardner CD, Rottman JN, Sims H, Bartelds B, Khuchua Z, Sindhal R, Ni G, Strauss AW. (2006) Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase. Am J Physiol Heart Circ Physiol 290:H1289-97.
Bennett MJ, Russell LK, Tokunaga C, Narayan SB, Tan L, Seegmiller A, Boriack RL, Strauss AW. (2006) Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase. Mol Genet Metab 89:74-9.
Strauss AW. (2005) Surprising? Perhaps not. Long-chain fatty acid oxidation during human fetal development. Pediatr Res 57:753-4.
Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Ijlst L, Vaz FM, van Vlies N, Overmars H, Duran M, Wijburg FA, Wanders RJ, Strauss AW. (2005) Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res 57:760-4.
Shekhawat PS, Matern D, Strauss AW. (2005) Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res 57:78R-86R.
Djouadi F, Aubey F, Schlemmer D, Ruiter JP, Wanders RJ, Strauss AW, Bastin J. (2005) Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders. Hum Mol Genet 14:2695-703.
Browning MF, Larson C, Strauss A, Marsden DL. (2005) Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis 28:545-50.
Strauss AW. (2004) Tandem mass spectrometry in discovery of disorders of the metabolome. J Clin Invest 113:354-6.
Spierkerkoetter U, Khuchua Z, Yue Z, Strauss AW. (2004) The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement. J Inherit Metab Dis 27:294-6.
Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Exil V, Duran M, Wijburg FA, Wanders RJ, Strauss AW. (2004) Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest 34:191-6.
Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. (2004) General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res 55:190-6.
Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I. (2004) Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein. Muscle Nerve 29:66-72.
McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF. (2004) Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Mol Genet Metab 82:112-20.
Strauss A, Lock JE. (2003) Pediatric cardiomyopathy--a long way to go. N Engl J Med 348:1703-5.
Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U. (2003) MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr 143:335-42.
Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. (2003) Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Hum Mutat 21:598-607.
Shekhawat P, Bennett MJ, Sadovsky Y, Nelson DM, Rakheja D, Strauss AW. (2003) Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases. Am J Physiol Endocrinol Metab 284:E1098-105.
Khuchua Z, Wozniak DF, Bardgett ME, Yue Z, McDonald M, Boero J, Hartman RE, Sims H, Strauss AW. (2003) Deletion of the N-terminus of murine map2 by gene targeting disrupts hippocampal ca1 neuron architecture and alters contextual memory. Neuroscience 119:101-11.
Exil VJ, Roberts RL, Sims H, McLaughlin JE, Malkin RA, Gardner CD, Ni G, Rottman JN, Strauss AW. (2003) Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice. Circ Res 93:448-55.
Zytkovicz TH, Fitzgerald EF, Marsden D, Larson CA, Shih VE, Johnson DM, Strauss AW, Comeau AM, Eaton RB, Grady GF. (2001) Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program. Clin Chem 47:1945-55.
Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, Matern D, Bennett MJ, Rinaldo P, Strauss AW. (2001) Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 107:1403-9.
Barycki JJ, O'Brien LK, Strauss AW, Banaszak LJ. (2000) Sequestration of the active site by interdomain shifting. Crystallographic and spectroscopic evidence for distinct conformations of L-3-hydroxyacyl-CoA dehydrogenase. J Biol Chem 275:27186-96.
Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW. (1999) A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med 340:1723-31.
Marc E. Rothenberg, MD, PhD Director, Division of Allergy and Immunology
Director, Division of Allergy and Immunology
Director, Cincinnati Center for Eosinophilic Disorders
Program Director, CHRCDA (K12)
Eosinophilia; eosinophilic disorders; asthma; allergy; food allergy
Visit the Rothenberg Lab.
Marc E. Rothenberg, MD, PhD, is the Director of the Division of Allergy and Immunology at Cincinnati Children's Hospital Medical Center, and a tenured Professor of Pediatrics at Cincinnati Children’s and the University of Cincinnati College of Medicine. He graduated summa cum laude with Highest Honors in Chemistry and Biochemistry from Brandeis University. He then matriculated at Harvard Medical School in the combined MD / PhD program. His PhD under the mentorship of Dr. Frank Austen included seminal studies on eosinophil hematopoiesis, as he developed the first culture system for human eosinophils.
After completing a two-year residency in pediatrics at Children’s Hospital in Boston, Dr. Rothenberg did a combined fellowship in allergy / immunology and hematology at Children’s Hospital in Boston. During this fellowship program, Dr. Rothenberg did post-doctorate training in the genetics laboratory of Dr. Philip Leder at Harvard Medical School, where he cloned the eotaxin chemokine. After being on faculty of Harvard Medical School for one year, he came to the University of Cincinnati and Cincinnati Children's, one of the largest pediatric medical and research centers in the United States. He is actively involved in managing a research program focused on understanding the molecular mechanisms of allergic disorders. At Cincinnati Children’s, he has helped build a top program in pediatric research, and his division is a leader in pediatric allergy and immunology. In addition, he sees patients suffering from allergic and immunological diseases from around the world as part of the Cincinnati Center for Eosinophilic Disorders that he directs.
Dr. Rothenberg’s awards include the Pharmacia Allergy Research Foundation Award for the best young investigator in the allergy field; the Young Investigator Award and the Scholar in Allergy Award from the American Academy of Allergy, Asthma, and Immunology; the Ohio Governor’s Recognition Award; the 2007 E Mead Johnson Award from the Society of Pediatric Research; and an NIH MERIT Award in 2010 from the NIAID. He is an elected member of the American Society of Clinical Investigation, Society for Pediatric Research, and a Diplomate of the American Academy of Allergy, Asthma and Immunology.
Among his extensive publications of more than 250 articles on molecular mechanisms of allergic responses, Dr. Rothenberg edited a book entitled, “Chemokines in Allergic Disease”. He has served on various review panels for journals and grant agencies including the National Institutes of Health, where he served on the Advisory Council of the NIAID, Burroughs Trust, and the Medical Research Council of the UK. His research has been supported by numerous sources including the National Institutes of Health, the USA Department of Defense, Human Frontier Science Program Organization, the Burroughs Wellcome Fund, the Dana Foundation, and the Food Allergy and Anaphylaxis Network.
Visit the Rothenberg Lab website
MD, PhD: Harvard Medical School, Cambridge, MA, 1990.
Residency: Pediatrics, Children's Hospital, Boston, MA, 1991-1992.
Fellowship: Immunology / Allergy, Children's Hospital, Boston, MA, 1992-1994; Hematology / Oncology, Children's Hospital and Dana Farber Cancer Institute, Boston, MA, 1992-1995.
Certification: National Board of Medical Examiners, 1991; Board of Registration in Medicine, MA, 1992; American Board of Pediatrics, 1995, 2001, 2008; Ohio State Medical Board, 1997; American Board of Allergy and Immunology, 1997, 2006.
Franciosi JP, Hommel KA, Debrosse CW, Greenberg AB, Greenler AJ, Abonia JP, Rothenberg ME, Varni JW. Quality of life in paediatric eosinophilic oesophagitis: what is important to patients? Child Care Health Dev. 2011.
Debrosse CW, Franciosi JP, King EC, Buckmeier Butz BK, Greenberg AB, Collins MH, Abonia JP, Assa'ad A, Putnam PE, Rothenberg ME. Long-term outcomes in pediatric-onset esophageal eosinophilia. J Allergy Clin Immunol. 2011.
Sherrill JD, Rothenberg ME. Genetic dissection of eosinophilic esophagitis provides insight into disease pathogenesis and treatment strategies. J Allergy Clin Immunol. 2011.
Liacouras CA, Furuta GT, Hirano I, Atkins D, Attwood SE, Bonis PA, Burks AW, Chehade M, Collins MH, Dellon ES, Dohil R, Falk GW, Gonsalves N, Gupta SK, Katzka DA, Lucendo AJ, Markowitz JE, Noel RJ, Odze RD, Putnam PE, Richter JE, Romero Y, Ruchelli E, Sampson HA, Schoepfer A, Shaheen NJ, Sicherer SH, Spechler S, Spergel JM, Straumann A, Wershil BK, Rothenberg ME, Aceves SS. Eosinophilic esophagitis: Updated consensus recommendations for children and adults. J Allergy Clin Immunol. 2011. Baye TM, Butsch Kovacic M, Biagini Myers JM, Martin LJ, Lindsey M, Patterson TL, He H, Ericksen MB, Gupta J, Tsoras AM, Lindsley A, Rothenberg ME, Wills-Karp M, Eissa NT, Borish L, Khurana Hershey GK. Differences in Candidate Gene Association between European Ancestry and African American Asthmatic Children. PLoS One. 2011 Feb 28;6(2):e16522.
Blanchard C, Stucke EM, Rodriguez-Jimenez B, Burwinkel K, Collins MH, Ahrens A, Alexander ES, Butz BK, Jameson SC, Kaul A, Franciosi JP, Kushner JP, Putnam PE, Abonia JP, Rothenberg ME. A striking local esophageal cytokine expression profile in eosinophilic esophagitis. J Allergy Clin Immunol. 2011 Jan;127(1):208-17, 217.e1-7.
Zhu H, Perkins C, Mingler MK, Finkelman FD, Rothenberg ME. The role of neuropeptide S and neuropeptide S receptor 1 in regulation of respiratory function in mice. Peptides. 2011 Apr;32(4):818-25.
Sivaprasad U, Warrier MR, Gibson AM, Chen W, Tabata Y, Bass SA, Rothenberg ME, Khurana Hershey GK. IL-13Rα2 has a protective role in a mouse model of cutaneous inflammation. J Immunol. 2010 Dec 1;185(11):6802-8.
Miles MV, Putnam PE, Miles L, Tang PH, DeGrauw AJ, Wong BL, Horn PS, Foote HL, Rothenberg ME. Acquired coenzyme Q10 deficiency in children with recurrent food intolerance and allergies. Mitochondrion. 2011 Jan;11(1):127-35.
Lacy P, Willetts L, Kim JD, Lo AN, Lam B, Maclean EI, Moqbel R, Rothenberg ME, Zimmermann N. Agonist Activation of F-Actin-Mediated Eosinophil Shape Change and Mediator Release Is Dependent on Rac2. Int Arch Allergy Immunol. 2011;156(2):137-147.
NICHHD Pediatric Center for Gene Expression and Developmental Sciences. Program Director. National Institutes of Health. 2007-2011. K12 HD028827.
IL-13 and Eosinophilic Esophagitis. Principal Investigator. National Institutes of Health. 2007-2012. R01 DK076893.
Genetics of Eosinophilic Esophagitis. Principal Investigator. Department of Defense. 2010-2012. DOD W81XWH1010167.
Resistin-like Molecules in the Lung. Co-Principal Investigator. US-Israel Binational Science Foundation. 2010-2012. #2009222.
IL-13 Associated Eosinophil Lung Responses. Principal Investigator. National Institutes of Health. 2009-2014. R01 AI083450.
Regulation of Gastrointestinal Eosinophils. Principal Investigator. National Institutes of Health. 2009-2014. R37 AI045898.
Gregory A. Grabowski, MD
Adjunct Professor, UC Department of Pediatrics
Lysosomal storage diseases; molecular enzymology; gaucher disease; Fabry disease; molecular pathogenesis
Molecular pathogenesis and therapy of human genetic disease
Xu YH, Sun Y, Barnes S, Grabowski GA. Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model. PLoS One. 2010 May 20;5(5):e10750.
Sun Y, Grabowski GA. Impaired autophagosomes and lysosomes in neuronopathic Gaucher disease. Autophagy. 2010 Jul;14:6(5).
Xu YH, Barnes S, Sun Y, Grabowski GA. Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res. 2010 Jul;51(7):1643-75.
Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA. Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits. Hum Mol Genet. 2010 Mar 15;19(6):1088-97.
Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA. Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse. Hum Mol Genet. 2010 Feb 15;19(4):634-47.
Sun Y, Liou B, Quinn B, Ran H, Xu YH, Grabowski GA. In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models. PLoS One. 2009 Oct 7;4(10):e7320.
Grabowski GA, Kacena K, Cole JA, Hollak CE, Zhang L, Yee J, Mistry PK, Zimran A, Charrow J, vom Dahl S. Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1. Genet Med. 2009 Feb;11(2):92-100.
Liou B, Grabowski GA. Participation of asparagine 370 and glutamine 235 in the catalysis by acid beta-glucosidase: the enzyme deficient in Gaucher disease. Mol Genet Metab. 2009 May;97(1):65-74.
Grabowski GA. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet. 2008 Oct 4;372(9645):1263-71.
Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008 Oct 1;146A(19):2512-9.
Stuart Handwerger, MD
Professor of Cancer and Cell Biology
Regulation of gene expression in human placenta and uterine decidua during differentiation.
Visit the Handwerger Lab.
Sherafat-Kazemzadeh R, Schroeder JK, Kessler CA, Handwerger S. Parathyroid Hormone-Like Hormone (PTHLH) Represses Decidualization of Human Uterine Fibroblast Cells by an Autocrine/Paracrine Mechanism. J Clin Endocrinol Metab. 2011 Feb;96(2):509-14.
Hubert MA, Sherritt SL, Bachurski CJ, Handwerger S. Involvement of transcription factor NR2F2 in human trophoblast differentiation. PLoS One. 2010 Feb 25;5(2):e9417.
Handwerger S. New insights into the regulation of human cytotrophoblast cell differentiation. Mol Cell Endocrinol. 2010 Jul 8;323(1):94-104.
Kessler CA, Bachurski CJ, Schroeder J, Stanek J, Handwerger S. TEAD1 inhibits prolactin gene expression in cultured human uterine decidual cells. Mol Cell Endocrinol. 2008 Nov 25;295(1-2):32-8.
Repaske DR, Handwerger S. Making the transition from pediatric to adult endocrinology services. Nat Clin Pract Endocrinol Metab. 2008 Sep;4(9):492-3.
Robins JC, Heizer A, Hardiman A, Hubert M, Handwerger S. Oxygen tension directs the differentiation pathway of human cytotrophoblast cells. Placenta. 2007 Nov-Dec;28(11-12):1141-6.
Eyal O, Jomain JB, Kessler C, Goffin V, Handwerger S. Autocrine prolactin inhibits human uterine decidualization: a novel role for prolactin. Biol Reprod. 2007 May;76(5):777-83.
Lomenick JP, Hubert MA, Handwerger S. Transcription factor FOXF1 regulates growth hormone variant gene expression. Am J Physiol Endocrinol Metab. 2006 Nov;291(5):E947-51.
Grinius L, Kessler C, Schroeder J, Handwerger S. Forkhead transcription factor FOXO1A is critical for induction of human decidualization. J Endocrinol. 2006 Apr;189(1):179-87.
Kessler CA, Schroeder JK, Brar AK, Handwerger S. Transcription factor ETS1 is critical for human uterine decidualization. Mol Hum Reprod. 2006 Feb;12(2):71-6.
James E. Heubi, MD Director, Clinical Translational Research Center
Director, Clinical Translational Research Center
Co-Director, Center for Clinical and Translational Science and Training
Associate Dean, Clinical and Translational Research
Inflammatory bowel disease; cholestatic liver disease; malabsorption
Cholesterol absorption; cholesterol metabolism; inborn errors of bile acid metabolism; bone metabolism in health and disease; TPN-related cholestasis and its treatment
James E. Heubi, MD, has been a practicing pediatric gastroenterologist since 1979, when he joined the staff at Cincinnati Children's Hospital Medical Center.
Dr. Heubi's practice includes the treatment of all disorders affecting the gastrointestinal tract, liver and biliary tract and pancreas.
Dr. Heubi's areas of practice interests include liver disease and complications related to end-stage liver disease and liver transplantation and the management of patients with "short gut" or compromised gut function requiring prolonged enteral or parenteral nutritional support.
Dr. Heubi is the Director of General Clinical Research Center at Cincinnati Children's and is the Associate Dean for Clinical Research, University of Cincinnati, College of Medicine.
Mizukawa B, George A, Pushkaran S, Weckbach L, Kalinyak K, Heubi JE, Kalfa TA. Cooperating G6PD mutations associated with severe neonatal hyperbilirubinemia and cholestasis. Pediatr Blood Cancer. 2011 May;56(5):840-2. Kohli R, Kirby M, Setchell KD, Jha P, Klustaitis K, Woollett LA, Pfluger PT, Balistreri WF, Tso P, Jandacek RJ, Woods SC, Heubi JE, Tschoep MH, D'Alessio DA, Shroyer NF, Seeley RJ. Intestinal adaptation after ileal interposition surgery increases bile acid recycling and protects against obesity-related comorbidities. Am J Physiol Gastrointest Liver Physiol. 2010 Sep;299(3):G652-60.
Heubi JE. Child health research and the Clinical Translational Science Awards: where have we been and where are we going? Clin Transl Sci. 2010 Jun;3(3):67-8.
Hommel KA, McGraw KL, Ammerman RT, Heubi JE, Hansen M, Dunlap E, Beidel DC. Psychosocial functioning in children and adolescents with gastrointestinal complaints and disorders. J Clin Psychol Med Settings. 2010 Jun;17(2):159-66.
Setchell KD, Zhao X, Jha P, Heubi JE, Brown NM. The pharmacokinetic behavior of the soy isoflavone metabolite S-(-)equol and its diastereoisomer R-(+)equol in healthy adults determined by using stable-isotope-labeled tracers. Am J Clin Nutr. 2009 Oct;90(4):1029-37.
Wooldridge JL, Heubi JE, Amaro-Galvez R, Boas SR, Blake KV, Nasr SZ, Chatfield B, McColley SA, Woo MS, Hardy KA, Kravitz RM, Straforini C, Anelli M, Lee C. EUR-1008 pancreatic enzyme replacement is safe and effective in patients with cystic fibrosis and pancreatic insufficiency. J Cyst Fibros. 2009 Dec;8(6):405-17.
Graham RC, Heubi JE, Cohen MB, Li B. Teaching and tomorrow: a novel recruitment program for a pediatric subspecialty. J Pediatr Gastroenterol Nutr. 2009 Nov;49(5):594-8.
Burke KT, Horn PS, Tso P, Heubi JE, Woollett LA. Hepatic bile acid metabolism in the neonatal hamster: expansion of the bile acid pool parallels increased Cyp7a1 expression levels. Am J Physiol Gastrointest Liver Physiol. 2009 Jul;297(1):G144-51.
Heubi JE. Pancreatic enzyme-replacement therapy in CF: considerations for the USA. Expert Rev Respir Med. 2008 Oct;2(5):589-96.
Heubi JE, Setchell KD, Bove KE. Inborn errors of bile acid metabolism. Semin Liver Dis. 2007 Aug;27(3):282-94.
Margaret K. Hostetter, MD Director, Infectious Diseases
Director, Infectious Diseases
Bacterial and fungal infections; medical evaluation of internationally adopted children
Jeffrey Robbins, PhD Director and Endowed Chair, Molecular Cardiovascular Biology
Director and Endowed Chair, Molecular Cardiovascular Biology
Executive Co-Director, Heart Institute
Associate Chair, Children's Hospital Research Foundation
Structure function relationships for the contractile proteins; cardiac-specific gene manipulation in transgenic rabbits; the contractile protein myosin, and human heart failure; molecular studies of human valve disease
Visit the Robbins Lab.
Maloyan A, Sayegh J, Osinska H, Chua BH, Robbins J. Manipulation of death pathways in desmin-related cardiomyopathy. Circ Res. 2010 May 14;106(9):1524-32.
Terrell D, Robbins J. Protein conformation-based disease: getting to the heart of the matter. Annu Rev Physiol. 2010 Mar 17;72:15-7.
Maillet M, Davis J, Auger-Messier M, York A, Osinska H, Piquereau J, Lorenz JN, Robbins J, Ventura-Clapier R, Molkentin JD. Heart-specific deletion of CnB1 reveals multiple mechanisms whereby calcineurin regulates cardiac growth and function. J Biol Chem. 2010 Feb 26;285(9):6716-24.
Nakayama H, Bodi I, Correll RN, Chen X, Lorenz J, Houser SR, Robbins J, Schwartz A, Molkentin JD. alpha1G-dependent T-type Ca2+ current antagonizes cardiac hypertrophy through a NOS3-dependent mechanism in mice. J Clin Invest. 2009 Dec;119(12):3787-96. doi: 10.1172/JCI39724.
James J, Hor K, Moga MA, Martin LA, Robbins J. Effects of myosin heavy chain manipulation in experimental heart failure. J Mol Cell Cardiol. 2010 May;48(5):999-1006.
Heineke J, Wollert KC, Osinska H, Sargent MA, York AJ, Robbins J, Molkentin JD. Calcineurin protects the heart in a murine model of dilated cardiomyopathy. J Mol Cell Cardiol. 2010 Jun;48(6):1080-7.
Nakamura T, Gulick J, Pratt R, Robbins J. Noonan syndrome is associated with enhanced pERK activity, the repression of which can prevent craniofacial malformations. Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15436-41.
Nakamura T, Gulick J, Colbert MC, Robbins J. Protein tyrosine phosphatase activity in the neural crest is essential for normal heart and skull development. Proc Natl Acad Sci U S A. 2009 Jul 7;106(27):11270-5.
Gulick J, Robbins J. Cell-type-specific transgenesis in the mouse. Methods Mol Biol. 2009;561:91-104.
Nicolaou P, Rodriguez P, Ren X, Zhou X, Qian J, Sadayappan S, Mitton B, Pathak A, Robbins J, Hajjar RJ, Jones K, Kranias EG. Inducible expression of active protein phosphatase-1 inhibitor-1 enhances basal cardiac function and protects against ischemia/reperfusion injury. Circ Res. 2009 Apr 24;104(8):1012-20.
Cardiac Signaling in the Normal and Abnormal Heart. Principal Investigator. National Heart, Lung, and Blood Institute. Jun 2002 - Nov 2012. #P01HL69779.
Cardiomyocyte Toxicity and Heart Failure in Desmin Related Cardiomyopathy. Principal Investigator. National Heart, Lung, and Blood Institute. Jan 2008 - Dec 2012. #R01 HL087862.
Stephanie M. Ware, MD, PhD, FACMG Co-Director, Cardiovascular Genetics
Co-Director, Cardiovascular Genetics
Associate Medical Director and Director of Research and Development, The Heart Institute Diagnostic Laboratory
Associate Professor, UC Department of Pediatrics
Clinical genetics; cardiovascular genetics; cardiomyopathy; cardiovascular development
Stephanie M. Ware, MD, PhD, is an Associate Professor of Pediatrics, University of Cincinnati College of Medicine. She is Co-Director of Cardiovascular Genetics in the Heart Institute as well as Associate Medical Director and Director of Research and Development of the Heart Institute Diagnostic Laboratory. She has a joint academic appointment in the Division of Human Genetics at Cincinnati Children’s Hospital. Dr. Ware graduated Summa cum laude with highest honors in Zoology from Butler University. She earned her MD and PhD degrees at the University of Cincinnati College of Medicine where she was elected to Alpha Omega Alpha Honor Society. She completed her pediatric residency and clinical genetics fellowship at Baylor College of Medicine in Houston, Texas.
Dr. Ware’s research interests include the genetic and developmental basis of disorders of cardiac structure and function. Her research laboratory has made significant contributions in the areas of congenital heart defects and cardiomyopathy. Dr. Ware has received a number of scholarly awards including the Weinstein Cardiovascular Development Young Investigator Award, the March of Dimes Research Foundation Basil O’Connor Scholar Award, and the Burroughs Wellcome Clinical Scientist in Translational Research Award. She holds numerous grants and is currently Co-Chair of the American Heart Association Cardiovascular Development study section. In 2011, she was elected as the National Council Member Representing Genetics for the Society of Pediatric Research. Clinically, Dr. Ware evaluates and manages patients with genetic disorders and has specific expertise in cardiomyopathy and syndromes with cardiovascular disease. Dr. Ware is a member of the American Heart Association, the American Society for Human Genetics, the Society for Pediatric Research, and is Faculty of the American College of Medical Genetics.
Visit Dr. Ware's Lab site.
MD, PhD: University of Cincinnati College of Medicine, Cincinnati, OH,1997.
Residency: Pediatrics, Baylor College of Medicine, 2002.
Fellowship: Medical Genetics, Baylor College of Medicine, 2002.
American Board of Pediatrics, 2000, 2007.
American Board of Medical Genetics in Clinical Genetics, 2002.
Tariq M, Belmont JW, Lalani S, Smolarek T, Ware SM. SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2012. Epub ahead of print.
Bedard JEJ, Haaning AM, Ware SM. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease patients. PLoS One. 2011;6(8):e23755.
Czosek RJ, Haaning A, Ware SM. A mouse model of conduction system patterning abnormalities in heterotaxy syndrome. Pediatr Res. 2010;68:275-280.
Sutherland M, Ware SM. Disorders of left-right asymmetry: heterotaxy and situs inversus. Am J Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):307-17.
Ware SM*, El-Hassan N, Kahler SG, Zhang Q, Ma Y-M, Miller E, Wong B, Spicer RL, Craigen WJ, Kozel BA, Grange DK, Wong L-J. Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. J Med Genet. 2009;46: 308-314. *corresponding author
Kogan JM, Miller E, Ware SM. High resolution SNP based microarray mapping of mosaic supernumerary marker chromosomes 13 and 17: delineating novel loci for apraxia. Am J Med Genet. 2009;149A: 887-893.
Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM. Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009;18: 861-871.
Ware SM*, Quinn M, Ballard ET, Miller E, Uzark K, Spicer RL. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain. Clin Genet. 2008;73: 165-170. *corresponding author
Bedard JEJ, Purnell JD, Ware SM. Nuclear import and export signals are essential for proper cellular trafficking and function of ZIC3. Hum Mol Genet. 2007;16: 187-198.
Ware SM, Harutyunyan KG, Belmont JW. Heart defects in X linked heterotaxy: evidence for a genetic interaction of Zic3 with the Nodal signaling pathway. Dev Dyn. 2006 Jun;235:1631-1637.
Jeffrey A. Whitsett, MD Co-Director, Perinatal Institute
Co-Director, Perinatal Institute
Chief, Section of Neonatology, Perinatal and Pulmonary Biology
Cystic fibrosis research; lung morphogenesis; control of gene expression in the respiratory epithelium; gene delivery and therapy
Visit the Whitsett Lab.
Jeffrey A. Whitsett, MD, is chief of the Section of Neonatology, Perinatal and Pulmonary Biology at Cincinnati Children's Hospital Medical Center.
Dr. Whitsett received his medical degree from Columbia University, in New York, and has been a faculty member since 1977. He is internationally known for his research in pulmonary medicine, as well as for his clinical expertise in neonatology.
Dr. Whitsett has made a series of groundbreaking contributions in pulmonary medicine. His major pioneering work has been on surfactant proteins A, B, C and D, cloning their genes, and clarifying their roles in lung development.
Throughout his career, Dr. Whitsett has had the remarkable ability to move from molecular biology, to animal models, to diagnosis and therapy of human disease. He played a critical role in making surfactant protein replacement a routine tool for treating immature lungs and respiratory distress syndrome in premature infants. His laboratory has contributed to the identification of a number of genes critical for lung formation and function. Mutations in genes regulating surfactant homeostasis were shown to cause acute and chronic lung disease in infants and adults.
Dr. Whitsett is a member of the Institute of Medicine, National Academy of Sciences and is the recipient of the Mead Johnson Award, a National Institutes of Health (NIH) Merit Award, the first Julius Comroe Lectureship in Pulmonary Research from FASEB, the William Cooper Procter Award from Cincinnati Children's, the Amberson Lecture Award of the American Thoracic Society, the prestigious Daniel Drake Medal for scientific contributions from the University of Cincinnati College of Medicine, the International Arvo Ylppö Medal from the Finnish Foundation for Pediatric Research and the Grand Hamdan International Award on Neonatal Medicine from the United Arab Emirates.
Dr. Whitsett is the author of more than 400 papers in both the basic science and clinical literature.
MD: Columbia University, New York, NY, 1973.
Residency: Pediatrics, Mt. Sinai Hospital, New York City, 1974 to 1976.
Fellowship: Neonatology, Children's Hospital Medical Center, University of Cincinnati College of Medicine, 1976 to 1977.
Sivaprasad U, Askew DJ, Ericksen MB, Gibson AM, Stier MT, Brandt EB, Bass SA, Daines MO, Chakir J, Stringer KF, Wert SE, Whitsett JA, Le Cras TD, Wills-Karp M, Silverman GA, Khurana Hershey GK. A nonredundant role for mouse Serpinb3a in the induction of mucus production in asthma. J Allergy Clin Immunol. 2011 Jan;127(1):254-61, 261.e1-6. Lin SC, Wani MA, Whitsett JA, Wells JM. Klf5 regulates lineage formation in the pre-implantation mouse embryo. Development. 2010 Dec;137(23):3953-63. Suzuki T, Sakagami T, Young LR, Carey BC, Wood RE, Luisetti M, Wert SE, Rubin BK, Kevill K, Chalk C, Whitsett JA, Stevens C, Nogee LM, Campo I, Trapnell BC. Hereditary pulmonary alveolar proteinosis: pathogenesis, presentation, diagnosis, and therapy. Am J Respir Crit Care Med. 2010 Nov 15;182(10):1292-304. Wang IC, Zhang Y, Snyder J, Sutherland MJ, Burhans MS, Shannon JM, Park HJ, Whitsett JA, Kalinichenko VV. Increased expression of FoxM1 transcription factor in respiratory epithelium inhibits lung sacculation and causes Clara cell hyperplasia. Dev Biol. 2010 Nov 15;347(2):301-14. Perl AK, Riethmacher D, Whitsett JA. Conditional Depletion of Airway Progenitor Cells Induces Peribronchiolar Fibrosis. Am J Respir Crit Care Med. 2010 Sep 24.
Tompkins DH, Besnard V, Lange AW, Keiser AR, Wert SE, Bruno MD, Whitsett JA. Sox2 Activates Cell Proliferation and Differentiation in the Respiratory Epithelium. Am J Respir Cell Mol Biol. 2010 Sep 20. Meyer SE, Hasenstein JR, Baktula A, Velu CS, Xu Y, Wan H, Whitsett JA, Gilks CB, Grimes HL. Kruppel-like factor 5 is not required for K-RasG12D lung tumorigenesis, but represses ABCG2 expression and is associated with better disease-specific survival. Am J Pathol. 2010 Sep;177(3):1503-13. Xu Y, Zhang M, Wang Y, Kadambi P, Dave V, Lu LJ, Whitsett JA. A systems approach to mapping transcriptional networks controlling surfactant homeostasis. BMC Genomics. 2010 Jul 26;11:451. Sakagami T, Beck D, Uchida K, Suzuki T, Carey BC, Nakata K, Keller G, Wood RE, Wert SE, Ikegami M, Whitsett JA, Luisetti M, Davies S, Krischer JP, Brody A, Ryckman F, Trapnell BC. Patient-derived granulocyte/macrophage colony-stimulating factor autoantibodies reproduce pulmonary alveolar proteinosis in nonhuman primates. Am J Respir Crit Care Med. 2010 Jul 1;182(1):49-61. Chen G, Wan H, Luo F, Zhang L, Xu Y, Lewkowich I, Wills-Karp M, Whitsett JA. Foxa2 programs Th2 cell-mediated innate immunity in the developing lung. J Immunol. 2010 Jun 1;184(11):6133-41.
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