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Our specialists in the Fatty Acid Oxidation Disorders Diagnostic Testing Program are available to you for pre- or post-test consultation.
Nancy Doan Leslie, MD Director, Biochemical Genetics Laboratory
Director, Biochemical Genetics Laboratory
Director, ABMG-Accredited Clinical Training Program
Professor, UC Department of Pediatrics
Galactosemia; PKU; inborn errors; newborn screening; lysosomal storage disease
Focus on inborn errors of metabolism, with an emphasis on long term outcome in PKU and in the molecular biology of galactosemia
Slaughter JL, Meinzen-Derr J, Rose SR, Leslie ND, Chandrasekar R, Linard SM, Akinbi HT. The effects of gestational age and birth weight on false-positive newborn-screening rates. Pediatrics. 2010 Nov;126(5):910-6.
Dalal P, Leslie ND, Lindor NM, Gilbert DL, Espay AJ. Motor tics, stereotypies, and self-flagellation in primrose syndrome. Neurology. 2010 Jul 20;75(3):284-6.
Gilbert DL, Leslie EJ, Keddache M, Leslie ND. A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31. Mov Disord. 2009 Feb 15;24(3):364-70.
Burrow TA, Leslie ND. Review of the use of idursulfase in the treatment of mucopolysaccharidosis II. Biologics. 2008 Jun;2(2):311-20.
Burrow TA, Hopkin RJ, Leslie ND, Tinkle BT, Grabowski GA. Enzyme reconstitution/replacement therapy for lysosomal storage diseases. Curr Opin Pediatr. 2007 Dec;19(6):628-35. Review.
Halperin J, Devi SY, Elizure S, Stocco C, Shehu A, Rebourcet D, Unterman TG, Leslie ND, Le J, Binart N, Gibori, G. Prolactin signaling through the Short form of Its Receptor Represses Forkhead Transcription Factor FOXO3 and its Target Gene GALT Causing a Severe Ovarian Defect. Molecular Endocrinology. 2008 22:513-22.
Leslie, ND. Inborn errors and Pediatric Critical Care. In Wheeler, D ed. Pediatric Critical Care Medicine: Basic Science and Clinical Evidence. Springer 2007.
Tinkle B, Lesli ND. Pompe Disease. Gene Clinics. 2007.
Grabowski GA, Hopkin RJ, Burrow RA, Leslie ND, Tinkle BT. Enzyme Reconstitution/Replacement Therapy for Lysosomal Storage Diseases. Current Opinion in Pediatrics. 2007 19:628-35.
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu W, Leslie N, Levine J, Spencer C, McDonald M, DuMontier J, Michael H, Chien Y, Hopkin R, Vijayaraghavan S, Bruskin D, Barholomew D, van der Ploeg A, Clancy J, Prarin R, Morin G, Beck N, Delagastine G, Jokin M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Recombinant Human Acid -Alpha Glucosidase: Major Clinical Benefits in Infantile-Onset Pompe Disease. Neurology. 2007 68(2):99-109.
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
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.
Stipend and benefit Support is available to qualified candidates through NHLBI Training Grant: T-32 HL07382-30: "Training In Cardiovascular Biology", Dr. Arnold Schwartz, Principal Investigator.
Sivakumaran Theru-Arumugam, PhD Associate Director, Molecular Genetics Laboratory
Associate Director, Molecular Genetics Laboratory
Assistant Professor, UC Department of Pediatrics
MSc: Andhra University, India.
PhD: All India Institute of Medical Sciences, New Delhi, India.
Fellowship: Harvard Medical School.
Certification: Clinical Molecular Genetics, 2007.
C. Alexander Valencia, PhD Assistant Director, Molecular Genetics Laboratory
Assistant Director, Molecular Genetics Laboratory
Proteomics, apoptosis, degradomics, protein-protein interactions, genomics, clinical molecular genetics, genetic testing, molecular diagnostics, next-generation sequencing
C. Alexander Valencia, PhD, is a biochemist and clinical molecular geneticist who has basic and translational research programs in genomics and proteomics. His laboratory studies the biochemical mechanisms of apoptosis through a novel proteomic method called mRNA-display. Moreover, his translational research program, in the area of clinical molecular genetics, addresses the implementation of new molecular diagnostic platforms, including next-generation sequencing, in clinical genetic testing.
PhD: Ottawa-Carleton Institute of Biology, Carleton University, Ottawa, ON, 2004.
Postdoctoral Research Fellowship: Carolina Center for Genome Sciences and Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, NC, 2009.
Clinical Fellowship: Clinical Molecular Genetics, Department of Human Genetics, Emory University School of Medicine, GA, 2012.
Valencia CA, Rhodenizer D, Bhide S, Chin E, Littlejohn MR, Keong LM, Rutkowski A, Bonnemann C, Hegde M. Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn. 2012;14:233-246.
Cotten SW, Zou J, Valencia CA, Liu R. Selection of proteins with desired properties from natural proteome libraries using mRNA display. Nature Protocols. 2011;6:1163–1182.
Simnick AJ, Valencia CA, Liu R, Chilkoti A. Morphing low-affinity ligands into high-avidity nanoparticles by thermally triggered self-assembly of a genetically encoded polymer. ACS Nano. 2010;4:2217-2227.
Valencia CA, Cotten SW, Dong B, Liu R. mRNA-display-based selections for proteins with desired functions: a protease-substrate case study. Biotechnol. Prog. 2008;24:561-569.
Valencia CA, Cotten SW, Ju W, Duan J, Liu R. Modulation of Nucleobindin-1 and -2 by caspases. FEBS Lett. 2008;582:286–290.
Ju W, Valencia CA, Pang H, Ke Y, Gao W, Liu R. Proteome-wide identification of member-specific natural substrate repertoire of caspases. Proc Natl Acad Sci USA. 2007;104:14294–14299.
Dong B, Valencia CA, Liu R. Ca2+/Calmodulin directly interacts with the Pleckstrin Homology Domain of AKT1. J Biol Chem. 2007;282:25131-25140.
Valencia CA, Bailey C, Liu R. Novel Zebrafish caspase 3 substrates. Biochem Biophys Res Commun. 2007;361:311-316.
Shen X, Valencia CA, Szostak J, Dong B, Liu R. Scanning the human proteome for calmodulin-binding proteins. Proc Natl Acad Sci USA. 2005;102:5969-5974.
Taboada EN, Acedillo RR, Carrillo CD, Findlay WA, Medeiros DT, Mykytczuk OL, Roberts MJ, Valencia CA, Farber JM, Nash JH. Large-scale comparative genomics meta-analysis of Campylobacter jejuni isolates reveals low level of genome plasticity. J Clin Microbiol. 2004;42:4566-4576.
Kejian Zhang, MD, MBA Director, Molecular Genetics Laboratory
Director, Molecular Genetics Laboratory
Associate Professor, UC Department of Pediatrics
Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions
Molecular defects and molecular diagnosis of primary immunodeficiency diseases; Genetic aspects of predictive personalized medicine (pharmacogenetics)
MD: Tianjin Medical University, Tianjin, China, 1993
MBA: University of Cincinnati, College of Business Administration, 2001
Residency: Gong'an Hospital, Tianjin, China, 1993-1995
Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital, 2002-2004
Zhang K, Jordan MB, Klein P, Villanueva J, Risma K, Filipovic AH. .Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood. 2011 August 31.
Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood. 2010 Nov 4;116(18):3398-408.
Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82.
Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer. 2010 Jul 15;55(1):134-40. Pestian J, Spencer M, Matykiewicz P, Zhang K, Vinks AA, Glauser T. Personalizing Drug Selection Using Advanced Clinical Decision Support. Biomed Inform Insights. 2009 Jun 23;2:19-29. Prows CA, Nick TG, Saldaña SN, Pathak S, Liu C, Zhang K, Daniels ZS, Vinks AA, Glauser TA. Drug-metabolizing enzyme genotypes and aggressive behavior treatment response in hospitalized pediatric psychiatric patients. J Child Adolesc Psychopharmacol. 2009 Aug;19(4):385-94. Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol. 2009 Jul;132(1):116-23. Marsh RA, Villanueva J, Zhang K, Snow AL, Su HC, Madden L, Mody R, Kitchen B, Marmer D, Jordan MB, Risma KA, Filipovich AH, Bleesing JJ. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009 Sep;76(5):334-44. Prausa SE, Fukuda T, Maseck D, Curtsinger KL, Liu C, Zhang K, Nick TG, Sherbotie JR, Ellis EN, Goebel J, Vinks AA. UGT genotype may contribute to adverse events following medication with mycophenolate mofetil in pediatric kidney transplant recipients. Clin Pharmacol Ther. 2009 May;85(5):495-500. Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, Binstadt BA, Filipovich A, Grom AA. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008 Sep;58(9):2892-6.
Macrophage Activation Syndrome Biomarkers in Systemic Juvenile Idiopathic Arthritis. Co-investigator. National Institute of Arthritis, Musculoskeletal and Skin Diseases. Aug 2007 - Dec 2012.
MUNC13-4 gene Polymorphisms in Macrophage Activation syndrome and Systemic Juvenile Idiopathic Arthritis. Co-Investigator. National Institute of Health. Sept 2011 - Aug 2016.
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