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The primary interest of the Huang Laboratory is to study the
molecular basis of genetic syndromes, to apply the discoveries from rare
diseases to common conditions and to develop treatments for genetic diseases.
Currently, we are focusing on the following areas:
1. The Genetic Basis of Optic Atrophy and the Potential of Inducible
Pluripotent Stem Cell (iPSC) therapy: We have worked with many families affected with
autosomal dominant inherited optic atrophy. A condition caused by mutations in
the OPA1 gene. OPA1 is encoded by the nuclear genome and functions in mitochondria. Using
electrophysiological analysis, we found that some mutations can also cause
hearing loss through asynchronous cochlear conduction and cochlear implant can
restore hearing. To study the function of OPA1 and the molecular mechanisms of optic atrophy, we created a drosophila model. We found that
mutations of Drosophila homolog of OPA1 (dOPA1) caused an increase in
reactive oxygen species (ROS) production and apoptosis. We also showed that antioxidants
could partially reverse the eye phenotype, further suggesting that ROS plays an
important role in cell death. Together, these results show that dOpa1 mutations cause cell loss by two
distinct pathogenic pathways. This study provides novel insights into the
pathogenesis of optic atrophy and demonstrates the promise of antioxidants as
therapeutic agents for this condition.
Recently, our lab is actively engaged in iPS cell therapy. We have successfully induced iPS cells
differentiation into retinal ganglion cells by chemical treatments and have
initiated the preclinical study.
of Mitochondrial Diseases: Mitochondria are the powerhouse of the cell. Over 90% of the
energy required by the cell is produced in the mitochondria. Our group also
works on the genetic causes of mitochondrial disorders. We have been using exome
sequencing, cell respiration assays, and mitochondrial functional assays to
study the pathogenesis of mitochondrial diseases for the patients with novel
3. Identification of the Disease-Causing Gene for Lenz
Microphthalmia Syndrome (LMS) Using
Next Generation Sequencing Technology: LMS is a rare
condition characterized by small eyes/no eye and multiple congenital anomalies
such as small brain and mental deficiency, abnormal ear, teeth, digits,
skeletal and/or genitourinary tract. In this study, we have used a very
powerful technology, next generation sequencing, to search for the
disease-causing gene in patients with LMS. Identification of disease-causing
genes associated with LMS has
significantly facilitated our understanding of this condition
and can translate into clinical applications.
Since LMS affects multiple organ systems, understanding the gene
associated with LMS may open a window for the investigation of other common
conditions and human development. Currently, we are using iPS cell model to
study pathogenesis and function of the disease-causing gene.
4. The Role of TBX3 in Breast Cancer Development and Human Embryonic Stem (hES) Cell Differentiation: TBX3 is a T-box
transcription factor. Mutations of TBX3 cause Ulnar-Mammary syndrome, characterized by hypoplasia or absence of the
mammary glands. Our laboratory is one of the first groups to show that
overexpression of TBX3 plays an important role in breast cancer. Our study showed
that TBX3 is overexpressed in primary breast cancer tissues. Mechanistically,
we found that TBX3 interacts with HDACs and inhibit downstream target gene
expression, such as p14ARF. In addition, we found that TBX3 regulates a large
group of genes in breast cancer. Our current research aims to optimize the
clinical relevance of this data working in parallel with animal and breast
cancer tissues. Recently, we have also found that TBX3 plays a very important
role in hES cell differentiation. This finding may further our understanding of
Barber JC, Rosenfeld JA, Graham JM, Kramer N, Lachlan KL, Bateman MS, Collinson MN, Stadheim BF, Turner CL, Gauthier JN, Reimschisel TE, Qureshi AM, Dabir TA, Humphreys MW, Marble M, Huang T, Beal SJ, Massiah J, Taylor EJ, Wynn SL. Inside the 8p23.1 duplication syndrome; nine microduplications of likely or uncertain clinical significance. Am J Med Genet A. 2015 Jun 11. [Epub ahead of print]
Pingping Jiang, Min Liang, Xiaoling Liu, Minglian Zhang, Qun Fu, Sai Zhang, Min Gao, Zengjun Zhang, Fuxin Zhao, Yanchun Ji, Juanjuan Zhang, Yi Tong, Yanhong Sun, Xiangtian Zhou, Taosheng Huang, Jia Qu, Min-Xin Guan. Mitochondrial ND4 mutations in 1281 Han Chinese subjects with Leber’s hereditary optic neuropathy. IOVS. 2015. In press.
Hamidreza Riazifar, Guoli Sun, Xinjian Wang, Alan Rupp, Shruti Vemaraju, Fred N. Ross-Cisneros, Richard A. Lang, Alfredo A. Sadun, Samer Hattar, Min-Xin Guan, Taosheng Huang. Phenotypic and Functional Characterization of Bst+/- Mouse Retina. Disease Model and Mechanisms. 2015. In press.
Hong Ma, Clifford D.L.Folmes, Robert Morey, Riffat Ahmed, Joanna Poulton, Xinjian Wang, Taosheng Huang, Louise C. Laurent, Andre Terzic, Paula Amato, Don P. Wolf, and Shoukhrat Mitalipov. Genetic Correction and Metabolic Rescue of Pluripotent Cells from Patients with mtDNA Disease. Nature. 2015. In press.
Alexander J Abrams, Robert B. Hufnagel, Adriana Rebelo, Claudia Zanna, Neville Patel, Michael Gonzalez, John Campeanu, Laurie Griffin, Saskia Groenewald, Alleene Strickland, Feifei Tao, Fiorella Speziani, Leonardo Caporali, Zubair M. Ahmed, Kristen L. Sund, Xinjian Wang, Laura A. Krueger, Yanyan Peng, Carlos E. Prada, Cynthia A. Prows, Elizabeth K. Schorry, Anthony Antonellis, Holly H. Zimmerman, Omar A. Abdul-Rahman, Yaping Yang, Susan Downes, Jeffery Prince, Andrea Nemeth, Valerio Carelli#, Taosheng Huang#$, Stephan Zuchner#$, Julia Dallman#. Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder. Nature Genetics. 2015. $ Corresponding authors.
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. #Corresponding author.
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, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb;52(2):85-94.
Kwong JQ, Davis J, Baines CP, Sargent MA, Karch J, Wang X, Huang T, Molkentin JD. 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, Wang D, Xue L, Guan MX, Huang T, Li R. Species identification through mitochondrial rRNA genetic analysis. Sci Rep.2014 Feb 13;4:4089.
Zhang J, Zhao F, Fu Q, Liang M, Tong Y, Liu X, Lin B, Mi H, Zhang M, Wei QP, Xue L, Jiang P, Zhou X, Mo JQ, Huang T, Qu J, Guan MX. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families. Mitochondrion. 2013;13(6):772-81.
Brodehl A, Dieding M, Klauke B, Dec E, Madaan S, Huang T, Gargus J, Fatima A, Saric T, Cakar H, Walhorn V, Tönsing K, Skrzipczyk T, Cebulla R, Gerdes D, Schulz U, Gummert J, Svendsen JH, Olesen MS, Anselmetti D, Christensen AH, Kimonis V, Milting H. The Novel Desmin Mutant p.A120D Impairs Filament Formation, Prevents Intercalated Disk Localization and Causes Sudden Cardiac Death. Circ Cardiovasc Genet. 2013 Dec;6(6):615-23.
Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis VE. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. JIMD Rep. 2013;11:99-106.
Riazifar H, Jia Y, Chen J, Lynch G, Huang T. Chemically induced specification of retinal ganglion cells from human embryonic and induced pluripotent stem cells. Stem Cells Transl Med. 2014 Apr;3(4):424-32.
Esmailpour T, Riazifar H, Liu L, Donkervoort S, Huang VH, Madaan S, Shoucri BM, Busch A, Wu J, Towbin A, Chadwick RB, Sequeira A, Vawter MP, Sun G, Johnston JJ, Biesecker LG, Kawaguchi R, Sun H, Kimonis V, Huang T. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014 Mar;51(3):185-96.
Taraneh Esmailpour, Hamidreza Riazifar, Sandra Donkervoort, Vincent H Huang, Shreshtha Madaan, Bassem M Shoucri, Anke Busch, Jerry Linan Liu, Jie Wu, Robert B Chadwick, Virginia Kimonis, Taosheng Huang. Whole exome sequencing identifies a genetic cause of Lenz Microphthalmia Syndrome. Journal of Medical Genetics. In press. 2013.
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, and Douglas C. Wallace. Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans, PNAS, 109(19):7391-6. 2012.
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, in press. 2012.
Taraneh Esmailpour and Taosheng Huang. TBX3 promotes human embryonic stem cell proliferation and neuroectoderm differentiation in a differentiation stage-dependent manner. Stem Cell, in press. 2012.
Joshua Park, Debbie Liang, Hoda Anton-Culver, Jung Woo Kim, Yongjun Luo, Taosheng Huang, Soo-Young Kim, Seong-Sil Chang. Nail DNA and Possible Biomarkers: A Pilot Study. J Prev Med Public Health. 45;235-243. 2012.
Eugen-Matthias Strehle, Linbo Yu, Jill A. Rosenfeld, Sandra Donkervoort, Yulin Zhou, Tian-Jian Chen, Jose E. Martinez, Yao-Shan Fan, Deborah Barbouth, Hongbo Zhu, Alicia Vaglio, Rosemarie Smith, Cathy A. Stevens, Cynthia J. Curry, Roger L. Ladda, Zheng (Jane) Fan, Joyce E. Fox, Judith A. Martin, Hoda Z. Abdel-Hamid, Elizabeth A. McCracken, Barbara C. McGillivray, Diane Masser-Frye and Taosheng Huang. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A,s, 158A:2139-2151, 2012.
Eugen-Matthias Strehle, Dariuz Gruszfeld, Daniel Schenk, Sarju G. Mehta,Ingrid Simonic and Taosheng Huang, The spectrum of 4q- syndrome illustrated by a case series. Gene. 506(2):387-391. 2012.
Luo, Y., Tang, S., Taosheng Huang*, and Gao, Y. Genotyping mitochondrial DNA single nucleotide polymorphisms by PCR ligase detection reactions. (* co-corresponding author) Clinical Chemistry and Laboratory Medicine. 48(4):475-83. 2010.
Sha Tang., and Taosheng Huang. Parallel sequencing for human mitochondrial DNA characterization and heteroplasmy quantification. Biotechniques. 48 (4):287–296. 2010.
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. 4(8):e6867. 2009.
Taosheng Huang, Rosamaria Santarelli, Arnold Starr. Cochlear potentials accompanying R445H mutation of OPA1 gene in patients with both optic and auditory neuropathies . Brain Research; 1300:97-104. 2009.
Sha Tang, Sumita Danda, Mehrdad Zoleikhaeian, Mariella Simon, Taosheng Huang. An Indian Boy with Nephropathic Cystinosis: A Case Report and Molecular Analysis of CTNS Mutation. Genetic testing and Molecular Biomarkers. 13 (4): 435–438. 2009.
Sha Tang, Anjan Batra, Yu Zhang, Eric S Ebenroth, Taosheng Huang. Mutations of the mitochondrial genome are associated with left ventricular noncompaction (LVNC). Mitochondrion, 10(4):350-7. 2009.
Will Yarosh, Jessica Monserrate, James Jiayuan Tong, Diane Le, Kimberly Nguyen, Carrie Brachmann Douglas Wallace, Taosheng Huang. The Molecular Mechanisms of OPA1-Mediated Optic Atrophy in Drosophila Model and Prospects for Antioxidant Treatment. PLoS Genetics, 4(1):e6. Jan 2008.
Will Yarosh*, Tomasa Barrientos*, Taraneh Esmailpour, Limin Lin, Philip M. Carpenter, Kathryn Osann, Hoda Anton-Culver and Taosheng Huang. TBX3 is overexpressed in breast cancer and represses p14ARF by interacting with HDACs . Cancer Research, 68:693-699. 2008. *These authors contribute equally.
Sha Tang, Stephanie Tse, Phung Khanh Le, Kimberly Nguyen, Douglas C. Wallace and Taosheng Huang. Heterozygous Mutation of Opa1 in Drosophila Shorten Lifespan Mediated through Increased Reactive Oxygen Species Production . PLoS One, 4(2):e4492. 2008.
Yongjun Luo, Wenxiang Gao, Yuqi Gao, Sha Tang, Qingyuan Huang, Xiaoling Tan, Jian Chen, Taosheng Huang. Mitochondrial Genome Analysis of Ochotona curzoniae and Implication of Cytochrome c Oxidase in Hypoxic Adaptation. Mitochondrion, 8 (2008) 352–357. 2008.
Shaohua Tang, Qimin Xu, Xueqin Xu, Xiaomei Yang, Xiaoqin Wang, Nancy Speck, Taosheng Huang. A novel missense mutation in the RUNX2 gene causes cleidocranial dysplasia in a Chinese family with hyperplastic nails. BMC Med Genet. 8:82. 2007.
Huang, MD, PhDProfessor, UC Department of PediatricsEmail: firstname.lastname@example.org
Min-Xin Guan, PhDAdjunct Professor, UC Department of PediatricsEmail: email@example.com
Ronghua Li, PhDResearch
Instructor, UC Department of PediatricsEmail: firstname.lastname@example.org
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