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The Molecular Genetics Laboratory services at Cincinnati Children's Hospital Medical Center are facilitated by talented faculty and staff members.
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.
Taosheng Huang, MD, PhD
Professor, UC Department of Pediatrics
Human genetics; mitochondrial diseases.
Visit the Huang Lab.
Taosheng Huang, MD, PhD, is a physician-scientist with substantial experience in translation research, particularly in mitochondrial medicine. After obtaining his MD, PhD, Dr. Huang did his pediatrics residency at Georgetown University Hospital 1993 to 1996. He completed his clinical genetics and clinical molecular genetics fellowship at Harvard Medical School and became a junior faculty member at the Children’s Hospital at Harvard from 1999. Dr. Huang is board-certified in Pediatrics, Clinical Genetics and Clinical Molecular Genetics. Dr. Huang moved to UC Irvine in 2001 and became a independent investigator.
The primary interest of his lab is in translation research, such as the genetic basis of optic atrophy and other mitochondrial diseases. Dr. Huang has published over 50 articles on a variety of topics that range from genetic syndromes to molecular mechanisms with experience and spectrum of interests. Recently, he has been working on mitochondria-related optic atrophy and the molecular basis of other mitochondria disease. He served as the director for the MitoMed Molecular Diagnostics Lab at UC Irvine for 8 years. The laboratory is CLIA-certified and mainly engaged in the study of molecular basis of mitochondria disease. The mutation of mitochondrial genome causes many human conditions, including cancer, diabetes and degenerative neurological disorders. Recently, Dr. Huang moved to Cincinnati Children's Hospital Medical Center to direct the program of mitochondrial medicine. The goal of the program is to integrate the research, molecular testing and clinical service to improve the care of patients with mitochondrial disease.
PhD: Biomedical Science, Mount Sinai Medical School, New York, 1991.
MS: Biochemistry, The Third Military Medical College, Chongqing, China, 1986.
MD: (Passed US Medical Board Exam step I, Step II and Step III), Fujian Medical College, Fuzhou, Fujian, China, 1983.
Research Fellowship: Seidman Laboratory, Howard Hughes Medical Institute, Harvard Medical School, Boston, Massachusetts, Dec 1997 - Jul 1999.
Clinical Fellowship: Clinical Genetics and Clinical Molecular Genetics, Children’s Hospital, Harvard Medical School, Boston, Massachusetts, Jul 1996 - Jul 1999.
Residency: Pediatrics, Georgetown University Medical School, Children’s Medical Center, Washington, DC, Jul 1993- Jul 1996.
Postdoctoral Fellowship: Jerome H. Holland Laboratory, American Red Cross, Rockville, Maryland, Dec 1991 - Jul 1993.
Taosheng Huang. The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment. PLoS Genetics. 2008 Jan;4(1):e6.
Will Yarosh*, Tomasa Barrientos*, Taraneh Esmailpour, Limin Lin, Philip M. Carpenter, Kathryn Osann, Hoda Anton-Culver, Taosheng Huang. TBX3 is overexpressed in breast cancer and represses p14ARF by interacting with HDACs. Cancer Research. 2008;68:693-699 *These authors contribute equally
Sha Tang, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Douglas C. Wallace, Taosheng Huang. Heterozygous Mutation of Opa1 in Drosophila Shorten Lifespan Mediated through Increased Reactive Oxygen Species Production. PLoS One, 4(2):e4492.
Parvin Shojaeian, Hung-Tat Leung, Karen Ocorr, Rolf Bodmer, William L. Pak, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Taosheng Huang. Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner. PLoS One. 2009;4(8):e6867.
Taosheng Huang, Rosamaria Santarelli, Arnold Starr. Cochlear potentials accompanying R445H mutation of OPA1 gene in patients with both optic and auditory neuropathies. Brain Research. 2009;1300:97-104
Jing Liu, Taraneh Esmailpour, Xiying Shang, Gultekin Gulsen, Andy Liu, Taosheng Huang. TBX3 overexpression in an inducible transgenic mouse model causes hyperplasia of the mammary glands and increased mammary stem cells. BMC Dev Biol. 2011;11:65.
Fuyun Ji, Mark S. Sharpley, Olga Derbenev, Leonardo Scherer Alves, Pin Qian, Yaoli Wang,Dimitra Chalkiab, Maria Lvov, Jiancheng Xu, Wei Yao, Mariella Simon, Julia Platt, Shiqin Xu, Alessia Angelinb, Antonio Davil, Taosheng Huang, Ping H. Wang, Lee-Ming Chuang, Lorna G. Moore, Guisheng Qian, Douglas C. Wallace. Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. PNAS. 2012;109(19):7391-6
Chengkang Zhang, Vincent H. Huang, Mariella Simon, Lokendra K. Sharma, Weiwei Fan, Richard Haas, Douglas C. Wallace, Yidong Bai, Taosheng Huang. Heteroplasmic Mutations of the Mitochondrial Genome Cause Paradox Effects on Mitochondrial Functions. FASEB Journal. 2012.
Taraneh Esmailpour, Taosheng Huang. TBX3 promotes human embryonic stem cell proliferation and neuroectoderm differentiation in a differentiation stage-dependent manner. Stem Cell. 2012.
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.
Amber Hogart Begtrup, PhD Assistant Director, Molecular Genetics Laboratory
Assistant Director, Molecular Genetics Laboratory
Amber Hogart Begtrup received her PhD in genetics with a focus in human genetics from the University of California, Davis in 2003. During her PhD she conducted research to identify underlying molecular etiologies of autism through molecular genetic investigation of human chromosome 15q11-13. In 2003, Dr. Begtrup transitioned to the National Institutes of Health, where she simultaneously performed post-doctoral research in the realm of epigenomics and hematopoietic development and trained in clinical molecular genetics.
While at the NIH, Dr. Begtrup was funded through the Pharmacology Research Associate Training Program sponsored by the National Institute of General Medical Sciences. During her training, Dr. Begtrup developed interests in bone marrow failure disorders as well as the application of next generation sequencing technologies to clinical genetics.
PhD: University of California, Davis.
Fellowship: Genetics, National Institutes of Health/National Human Genome Research Institute, Bethesda, MD.
Certification: Clinical Molecular Genetics, 2011.
C. Alexander Valencia, PhD 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.
Chinmayee N. Bhimarao, MS Genetic Counselor
Jessica A. Connor, MS Genetic Counselor
BS: Genetics, University of Wisconsin Madison, Madison, WI, 2009
MS: Genetic Counseling, University of Cincinnati, Cincinnati, OH, 2011
Jennifer R. Holle, MS Genetic Counselor
Judith A. Johnson, MS, CPM Project Manager
Barriers to genetic counseling; innovative methods of providing complex genetic information to patients and physicians
Judith Johnson, MS, is a board-certified genetic counselor with extensive experience in many areas of medical genetics. Judith is currently co-investigator in several research projects. Judith is also a certified Project Manager.
MS: Medical Genetics, Indiana University, Indianapolis, IN, 1985.
MS: Clinical Behavioral Psychology, Eastern Michigan University, Ypsilanti, MI, 1995.
Certification: Genetic Counseling, 1987; Project Management, 2010
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood. 2011 Aug 31.
Bleesing JJH, Johnson J, Zhang K. Autoimmune Lymphoproliferative Syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010.
Filipovich AH, Johnson J, Zhang K. WAS-Related Disorders. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010.
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. 55(1):134-40.
Zhang K, Filipovich AH, Johnson J, Marsh RA, Villanueva J. Hemophagocytic Lymphohistiocytosis, Familial. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2011.
Johnson J, Filipovich AH, Zhang K. X-Linked Hyper IgM Syndrome. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2011.
Sumegi J, Johnson J, Filipovich A, Zhang K, Marsh R. Lymphoproliferative Disease, X-Linked. GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2011.
Zhang K, Johnson JA, Biroschak J, Villanueva J, Lee SM, Bleesing JJ, Risma KA, Wenstrup RJ, Filipovich AH. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects. Int J Immunogenet. 2007 Aug;34(4):231-3
Elizabeth A. Ulm, MS Genetic Counselor, Division of Human Genetics
Brian D. Richardson Lab Supervisor, Molecular Genetics Laboratory, Division of Human Genetics
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