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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 513-636-0121 email@example.com
Director, Molecular Genetics Laboratory
Associate Professor, UC Department of Pediatrics
Molecular genetics diagnosis of inherited immunodeficiency disorders and other genetic conditions
MD: Tianjin Medical University, Tianjin, China, 1993.
MBA: College of Business Administration, University of Cincinnati, Cincinnati, OH, 2001.
Residency: Gong'an Hospital, Tianjin, China, 1993-1995.
Fellowship: Clinical Molecular Genetics Fellow, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 2002-2004.
Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, Zhang Y, Liu Z, Fritz JM, Marsh R, Husami A, Kissell D, Nortman S, Chaturvedi V, Haines H, Young LR, Mo J, Filipovich AH, Bleesing JJ, Mustillo P, Stephens M, Rueda CM, Chougnet CA, Hoebe K, McElwee J, Hughes JD, Karakoc-Aydiner E, Matthews HF, Price S, Su HC, Rao VK, Lenardo MJ, Jordan MB. AUTOIMMUNE DISEASE. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349:436-440.
Lindsley AW, Qian Y, Valencia CA, Shah K, Zhang K, Assa’ad A. Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation. J Clin Immunol. 2014 Nov;34(8):910-5.
Valencia CA, Indugula SR, Mathur A, Wei C, Brown J, Dell S, Cole I, Connor J, Zhang K. Misleading results from saliva samples of post bone marrow transplanted patients in exome analyses. Published Blood. 2014 Jul 24;124(4):660-1.
Zhang K, Chadrakasan S, Chapman H, Valencia CA, Husami A, Kissell D, Johnson JA, Filipovich AH. Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood. 2014 Aug 21;124(8):1331-4.
Qian Y, Johnson J, Connor J, Valencia CA, Barasa N, Schubert J, Husami A, Kissell D, Zhang G, Weirauch M, Filipovich A, Zhang K. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3. Pediatric Blood Cancer. 2014;61:1034–1040.
Theru Arumugam S, Husami A, Kissell D, Zhang W, Keddache M, Black AP, Tinkle BT, Greinwald JH, Zhang K. Performance Evaluation of the Next-Generation Sequencing Approach for Molecular Diagnosis of Hereditary Hearing Loss. Otolaryngol Head Neck Surg. 2013 Jun;148(6):1007-16.
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, et al. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH. Blood. 2011;118:5794-5798
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;55:134-140.
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;58:2892-2896.
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;34:231-233.
Taosheng Huang, MD, PhD 513-803-9260 firstname.lastname@example.org
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.
Simon M, Richard EM, Wang X, Shahzad M, Huang VH, Qaiser TA, Potluri P, Mahl SE, Davila A, Nazli S, Hancock S, Yu M, Gargus J, Chang R, Al-Sheqaih N, Newman WG, Abdenur J, Starr A, Hegde R, Dorn T, Busch A, Park E, Wu J, Schwenzer H, Flierl A, Florentz C, Sissler M, Khan SN, Li R, Guan MX, Friedman TB, Wu DK, Procaccio V, Riazuddin S, Wallace DC, Ahmed ZM, Huang T, Riazuddin S. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet. 2015 Mar 25;11(3):e1005097.
Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez M, Campeanu J, Griffin L, Groenewald S, Strickland A, Tao F, Speziani F, Caporali L, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes S, Prince J, Nemeth A, Carelli V, Huang T*, Zuchner S*, Dallman J*. Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder. Nature Genetics. 2015. * corresponding authors.
Ma H, Folmes CDL, Morey R, Ahmed R, Poulton J, Wang X, Huang T, Laurent LC, Terzic A, Amato P, Wolf DP, Mitalipov S. Genetic Correction and Metabolic Rescue of Pluripotent Cells from Patients with mtDNA Disease. Nature. 2015.
Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesv T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy Target Esterase impairments result in a diverse spectrum of childhood and adult neurodegenerative disorders. Journal of Medical Genetics. 2015;52:85-94.
Riazifar H, Sun G, Wang X, Rupp A, Vemaraju S, Ross-Cisneros FN, Lang RA, Sadun AA, Hattar S, Guan M, Huang T. Phenotypic and Functional Characterization of Bst+/- Mouse Retina. Disease Model and Mechanisms. 2015.
Jiang P, Liang M, Liu X, Zhang M, Fu Q, Zhang S, Gao M, Zhang Z, Zhao F, Ji Y, Zhang J, Tong Y, Sun Y, Zhou X, Huang T, Qu J, Guan M. Mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber’s hereditary optic neuropathy. IOVS. 2015.
Barber JCK, Rosenfeld JA, Graham Jr JM, Kramer N, Lachlan K, Bateman MS, Collinson MN, Stadheim BF, Turner CLS, Stevens AK, Delk P, Weaver DD, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphries MV, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn S. Inside the 8p23.1 duplication syndrome; nine microduplications of likely or uncertain clinical significance. American Journal of Medical Genetics. 2015.
Kwong JQ, Davis J, Baines CP, Sargent MA, Karch J, Wang X, Huang T, Molkentin JD. Molkentin Genetic deletion of the mitochondrial phosphate carrier desensitizes the mitochondrial permeability transition pore and causes cardiomyopathy. Cell Death Differ. 2014 Aug;21(8):1209-17.
Gong S, Peng Y, Jiang P, Wang M, Fan M, Wang X, Zhou H, Li H, Yan Q, Huang T, Guan MX. A deafness-associated tRNAHis mutation alters the mitochondrial function, ROS production and membrane potential. Nucleic Acids Res. 2014 Jul;42(12):8039-48.
Yang L, Tan Z, Xue L, Guan M, Huang T, Li R. Species identification by analyses of mitochondrial rRNA genes. Scientific Reports. 2014.
Hatice Duzkale, MD, MPH, PhD Assistant Director, Division of Human Genetics 513-636-4475 email@example.com
Assistant Director, Division of Human Genetics
Assistant Professor, UC Department of Pediatrics
Cancer genetics; molecular diagnosis; clinical trials; targeted therapy of cancer; exome/genome sequencing; diagnostic applications of droplet digital PCR (ddPCR)
MD: Ankara University, Ankara, Turkey, 1998.
MPH: The University of Texas School of Public Health, Houston, TX, 2003.
PhD: The University of Texas Graduate School of Biomedical Sciences and MD Anderson Cancer Center, Houston, TX, 2011.
Fellowship: Clinical Molecular Genetics Training Program at Harvard Medical School, Boston, MA, 2013.
Certification: Clinical Molecular Genetics (ABMG), 2013.
Jamuar SS, Duzkale H, Duzkale N, Zhang CS, High FA, Kaban L, Bhattacharya S, Crandall B., Kantarcı S, Stoler JM, Lin AE. Deletion of Chromosome 8q22.1, a Critical Region for Nablus Mask-Like Facial Syndrome: Four Additional Cases Support a Role of Genetic Modifiers in the Manifestation of the Phenotype. Am J Hum Genet. 2014. Accepted.
Catherine A. Brownstein, Alan H. Beggs, Nils Homer, Barry Merriman, Timothy W. Yu, Katherine C. Flannery, Elizabeth T. DeChene, Meghan C. Towne, Sarah K. Savage, Emily N. Price, Ingrid A. Holm, Lovelace J. Luquette, Elaine Lyon, Joseph Majzoub Peter Neupert, David McCallie Jr, Peter Szolovits, Huntington F. Willard, Nancy J Mendelsohn, Renee Temme, Richard S. Finkel, Sabrina W. Yum, Livija Medne, Shamil R. Sunyaev, Ivan Adzhubey, Christopher A. Cassa, Paul I.W. de Bakker, Hatice Duzkale, Piotr Dworzyński, William Fairbrother, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol. 2014 Mar 25;15(3):R53.
Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.A systematic approach to assessing the clinical significance of genetic variants. Clin Genet. 2013 Nov;84(5):453-63.
Duzkale H, Schweighofer CD, Coombes KR, Barron LL, Ferrajoli A, O'Brien S, Wierda WG, Pfeifer J, Majewski T, Czerniak BA, Jorgensen JL, Medeiros LJ, Freireich EJ, Keating MJ, Abruzzo LV. LDOC1 mRNA is differentially expressed in chronic lymphocytic leukemia and predicts overall survival in untreated patients. Blood. 2011 Apr 14;117(15):4076-84.
Golemovic M, Quintás-Cardama A, Manshouri T, Orsolic N, Duzkale H, Johansen M, Freireich EJ, Kantarjian H, Zingaro RA, Verstovsek S. MER1, a novel organic arsenic derivative, has potent PML-RARalpha- independent cytotoxic activity against leukemia cells. Invest New Drugs. 2010 Aug;28(4):402-12.
Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families. Invest Ophthalmol Vis Sci. 2006 Jul:47(7):3052-64.
Duzkale H, Jilani I, Orsolic N, Zingaro RA, Golemovic M, Giles FJ, Kantarjian H, Albitar M, Freireich EJ, Verstovsek S. In vitro activity of dimethylarsinic acid against human leukemia and multiple myeloma cell lines. Cancer Chemother Pharmacol. 2003 May;51(5):427-32.
Duzkale H, Pagliaro LC, Rosenblum MG, Varan A, Liu B, Reuben J, Wierda WG, Korbling M, McMannis JD, Glassman AB, Scheinberg DA, Freireich EJ. Bone marrow purging studies in acute myelogenous leukemia using the recombinant anti-CD33 immunotoxin HuM195/rGel. Biol Blood Marrow Transplant. 2003 Jun;9(6):364-72.
C. Alexander Valencia, PhD Assistant Director, Molecular Genetics Laboratory 513-803-9033 firstname.lastname@example.org
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 B. Nagaraj, LGC
Genetic Counselor II, Division of Human Genetics 513-636-6779 email@example.com
Sanjukta N. Tawde, LGC, MS
Genetic Counselor, Division of Human Genetics 513-803-5247 firstname.lastname@example.org
Elizabeth A. Ulm, LGC
Genetic Counselor, Division of Human Genetics 513-803-4684 email@example.com
Emily G. Wakefield, LGC
Genetic Counselor, Division of Human Genetics 614-803-5441 firstname.lastname@example.org
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