I am a physician-scientist with substantial experience in translational research and mitochondrial medicine. My focus is on the integration of research, molecular testing and clinical service to improve the care of patients. Recently, I have been recruited to be the Chief of Genetics for Pediatrics at SUNY Buffalo, Director of Genetics & Metabolism at Oishei Children’s Hospital and Program Director of Clinical Cancer Genetics at Great Lakes Cancer Center. Previously, I served for eight years as Professor in Human Genetics, Director of the Program of Mitochondrial Medicine and Director of the Molecular Diagnostic laboratory at Cincinnati Children‘s Hospital Medical Center. My goal is to advance both UB and Oishei Children’s Hospital by bringing my cutting-edge research program and personnel from my previous institute, along with my 25 years of experience in clinical genetics. In addition, as the Chief of Genetics, I will help recruit additional experts in the field and attract new trainees to build up the research and clinical genetics environment at UB.
Clinically, I am interested in the genetics of mitochondrial diseases, genetic syndromes with congenital cardiac defects, newborn screening, and prenatal screening and diagnosis. I am also actively committed to the training of junior faculty, clinical and research fellows, a commitment that I will continue to follow at UB. Many of my trainees have become independent investigators and/or serve as lab directors in molecular diagnostic labs and cytogenetic labs.
My primary research interest is in ground-breaking translational research into the basis of mitochondrial disease. My group has published over 120 articles on a variety of topics, ranging from genetic syndromes to molecular mechanisms. Our research on mitochondrial replacement therapy in collaboration with Dr. John Zhang was ranked among the top 10 stories in 2016 by Nature and Science. Our discovery on paternal mtDNA was also ranked in the top 10 publications from 2019 by Nature. We plan to continue our research into novel disease-causing genes related to mitochondrial dysfunction, studying their pathogenic mechanisms and developing therapeutic treatments. Recently, we have shown that gene therapy based on the adeno-associated virus system can dramatically rescue the neurodegenerative phenotype in several of our mouse models of mitochondrial disease. Given these exciting results, we hope to eventually conduct clinical trials that will help translate these approaches into viable bedside treatments. In the long term, my vision is to apply these discoveries from rare, primary mitochondrial disorders to common conditions, such as aging, neurodegeneration and diabetes.
Education and Training:
Fellowship, Harvard Medical School Howard Hughes Medical Institute (1999)
Fellowship, Genetics and Metabolism, Harvard Medical School (1999)
Residency, Pediatrics, Georgetown University Medical Center (1996)
Internship, Pediatrics, Georgetown University Medical Center (1994)
Fellowship, American Red Cross Jerome H. Holland Laboratory (1993)
PhD, Biomedical Science, Mount Sinai Medical School (1991)
MS, Biochemistry, Third Military Medical College (1986)
University of California, Irvine College of Medicine: Junior Physician-Scientist Award (2004)
University of California, Irvine College of Medicine: Second Place Research Award (2003)
Boston Children’s Hospital/Harvard Medical School: Farley Fellowship (1998)
Georgetown University‘s Children‘s Medical Center: Resident Research Award (1996)
National Health Institute/Harvard Medical School: Fellowship Training Grant (1996)
Society of Chinese Biomedical Scientists in America: Third Place SCBA Poster Competition (1990)
American Society of Virology: Predoctoral Travel Fellowship (1989)
National Health Institute: Clinical Associate Physician Award (1999-2004)
Research Expertise:
Clinical Genetics
Human Genetics
Metabolism
Mitochondrial Medicine
Pathogenic Mechanisms
Translational Research
Grants and Sponsored Research:
December 2021–December 2024 The Margaret L. Wendt Foundation Equipment Grant The Margaret L. Wendt Foundation Role: Principal Investigator $338,000
April 2019–March 2024 Molecular Mechanism of Biallelic Mutations of FDXR Causing Novel Mitochondriopathy with Optic Atrophy NIH-National Eye Institute Role: Principal Investigator $1,250,000
April 2018–March 2023 Exploration of the genetic basis and molecular mechanism for paternal mitochondrial DNA inheritance. NIH-National Institute of Child Health & Development Role: Principal Investigator $1,200,000
April 2019–March 2021 Causal Role of Mitochondrial Dysfunctions in Aging by Analyzing an Epigenetic Clock in Patients with Mitochondrial DNA Mutations NIH-National Institute of Aging Role: Principal Investigator $250,000
September 2012–August 2019 Cincinnati Children’s Hospital Research Foundation Grant. Cincinnati Children’s Hospital Research Foundation Role: Principal Investigator $2,000,000
April 2016–March 2018 Molecular pathogenesis of SLC25A46 mutations in optic atrophy, axonal neuropathy, and cerebellar neurodegeneration Role: Principal Investigator $500,000
April 2008–March 2014 Genetics studies of optic atrophy NIH-National Eye Institute Role: Principal Investigator $1,000,000
January 2011–January 2013 Genetic and iPS Cell studies. Role: Principal Investigator $150,000
July 2005–December 2011 Studies of the TBX5 targets Larry & Helen Hoag Foundation Role: Principal Investigator $300,000
March 2008–June 2011 The role of TBX3 in Human Embryos Stem Cell Differentiation Minority Supplement for Taraneh Esmailpour NIH-National Cancer Institute Role: Principal Investigator $250,000
July 2007–June 2011 Intracellular Network of TBX3 in breast cancer NIH-National Cancer Institute Role: Principal Investigator $750,000
April 2006–March 2008 Transgenic TBX3 Animal Model to study breast cancer Susan Komen Breast Cancer Foundation Role: Principal Investigator $240,000
July 2001–June 2004 Faculty Development (Howard Hughes) Howard Hughes Medical Research Program Role: Principal Investigator $180,000
April 1999–March 2004 Clinical Associate Physician Award (K23): The Molecular Basis of Phenotypic Variability in Holt-Oram Syndrome. NIH Role: Co-Investigator $650,000
95. Derek E. Neilson, Michael Zech, Robert B. Hufnagel, Jesse Slone, Xinjian Wang, Shelli Homan, Lisa M. Gutzwiller, Elizabeth J. Leslie, Nancy D. Leslie, Jianfeng Xiao, Peter Hedera, Mark S. LeDoux, Brian Gebelein, Friederike Wilbert, Matthias Eckenweiler, Juliane Winkelmann, *Donald L. Gilbert, *Taosheng Huang. (2021) A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia. Movement Disorder (Oct) doi:10.1002/mds.28821
119. Zeyu Yang, Jesse Slone, Xinjian Wang, Jack Zhan, Yongbo Huang, Bahram Namjou Kenneth M. Kaufman, Michael Pauciulo, John B. Harley, Louis J. Muglia, Iouri Chepelev, Taosheng Huang,. (2021) Validation of Low Coverage Whole Genome Sequencing for Mitochondrial DNA Variants Suggests Mitochondrial DNA as a Genetic Cause of Preterm Birth. Human Mutation (Sep) doi:10.1002/humu.24279
Weiwei Zou, Qixin Chen, Jesse Slone, Li Yang, Xiaoting Lou, Jiajie Diao, Taosheng Huang. (2021) Quantitative evaluation of sub-mitochondrial morphology, mitophagy and mitochondrial dynamics in patients with mitochondrial disease by nanoscope. Journal of Nanobiotechnology (May) doi:10.1186/s12951-021-00882-9.
Yang L, Slone J, Zou W, Queme LF, Jankowski MP, Yin F, Huang T. (2020) Systemic delivery of AAV-Fdxr rescues the phenotypes of mitochondrial disorders in Fdxr mutant mice. Molecular Therapy - Methods & Clinical Development (May), 18: 84-97.
Slone J, Zou W, Luo S, Schmitt ES, Chen SM, Wang X, Brown J, Bromwell M, Chien YH, Hwu WL, Fan PC, Lee NC, Wong LJ, Zhang J, Huang T. (2020) Heteroplasmy variability in individuals with biparentally inherited mitochondrial DNA. bioRxiv (Feb).
Gui B, Yang Z, Luo S, Slone J, Nagaraj S, Sadzewicz L, Tallon LJ, Huang T. (2020) No evidence for intermolecular recombination in human fibroblast and blood mtDNA from individuals with biparental mtDNA transmission. bioRxiv (Feb).
Huang T, Li P. (2020) Principles guiding the development of clinical practice guidelines for medical genetics and genomics specialty. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Jan), 37: 219-225.
Song S, Slone J, Huang T. (2020) Role of Intestinal Bacteria and their Mechanisms on Host Health and Aging at the Genetic Level. (Jan), 14: 1-1.
Jiang Y, Huang T. (2019) Foreign experience the history and current status of medical genetics and genomics system in the United States. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Jan), 36: 1-6.
Sun G, Mathur A, Zou F, Husami A, Denton J, Zhang K, Huang T, Valencia CA. (2019) Two Novel Mutations in SALL1 Cause Townes-Brocks-Like Syndrome: New Findings from an Old Case. Genet Mol Med (Jan), 1: 1-7.
Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T. (2018) Biparental Inheritance of Mitochondrial DNA in Humans. Proc Natl Acad Sci U S A (Dec), 115(51): 13039-13044.
Hayashi Y, Zhang Y, Yokota A, Yan X, Liu J, Choi K, Li B, Sashida G, Peng Y, Xu Z, Huang R, Zhang L, Freudiger GM, Wang J, Dong Y, Zhou Y, Wang J, Wu L, Bu J, Chen A, Zhao X, Sun X, Chetal K, Olsson A, Watanabe M, Romick-Rosendale LE, Harada H, Shih LY, Tse W, Bridges JP, Caligiuri MA, Huang T, Zheng Y, Witte DP, Wang QF, Qu CK, Salomonis N, Grimes HL, Nimer SD, Xiao Z, Huang G. (2018) Pathobiological Pseudohypoxia as a Putative Mechanism Underlying Myelodysplastic Syndromes. Cancer Discov (Nov), 8(11): 1438-1457.
Tan ZY, Huang T, Ngeow J. (2018) The advancements of gene editing and potential application to hereditary cancer. Endocrine-Related Cancer (Jan), 25: T141-T158.
Kang E, Wu J, Gutierrez NM, Koski A, Tippner-Hedges R, Agaronyan K, Platero-Luengo A, Martinez-Redondo P, Ma H, Lee Y, Hayama T, Van Dyken C, Wang X, Luo S, Ahmed R, Li Y, Ji D, Kayali R, Cinnioglu C, Olson S, Jensen J, Battaglia D, Lee D, Wu D, Huang T, Wolf DP, Temiakov D, Belmonte JC, Amato P, Mitalipov S. (2016) Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature (Dec), 540(7632): 270-275.
Ma H, Folmes CD, Wu J, Morey R, Mora-Castilla S, Ocampo A, Ma L, Poulton J, Wang X, Ahmed R, Kang E, Lee Y, Hayama T, Li Y, Van Dyken C, Gutierrez NM, Tippner-Hedges R, Koski A, Mitalipov N, Amato P, Wolf DP, Huang T, Terzic A, Laurent LC, Izpisua Belmonte JC, Mitalipov S. (2015) Metabolic rescue in pluripotent cells from patients with mtDNA disease. Nature (Aug), 524(7564): 234-238.
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. (2015) Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. PLoS Genet (Mar), 11(3): 1005097-1005097.
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. (2015) Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet (Feb), 52(2): 85-94.
Xu S, Vu NHT, Chao E, Simon M, Zoleikhaeian M, Kimonis V, Huang T, Mozaffar T, Wallace DC. (2013) Summary of the mitochondrial findings in a series of 300 cases. Mitochondrion (Jan), 13(6): 936-937.
Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. (2012) Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A (Sep), 158A(9): 2139-2151.
Santarelli R, Starr A, del Castillo I, Huang T, Scimemi P, Cama E, Rossi R. (2011) Presynaptic and postsynaptic mechanisms underlying auditory neuropathy in patients with mutations in the OTOF or OPA1 gene. Audiological Medicine (Jan), 9(2): 59-66.
Basson CT, Huang T, Lin RC, Bachinsky DR, Weremowicz S, Vaglio A, Bruzzone R, Quadrelli R, Lerone M, Romeo G, Silengo M, Pereira A, Krieger J, Mesquita SF, Kamisago M, Morton CC, Pierpont ME, Müller CW, Seidman JG, Seidman CE. (1999) Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations. Proc Natl Acad Sci U S A (Mar), 96(6): 2919-2924.
Huang T, Palese P, Krystal M. (1990) Determination of influenza virus proteins required for genome replication. Journal of Virology (Jan), 64: 5669-5673.
Huang T, Dong Y. (1987) Changes in protein and nucleic acid metabolism in the liver of the scalded rats. Acta Academia Medicine (Chinese) (Jan), 10: 41-45.
Huang T, Dong Y. (1987) Changes in protein metabolism in the soleus muscle of the scalded rats and therapeutic effect of leucine and insulin (I). Acta Academia Medicine (Chinese) (Jan), 9: 16-20.
Huang T, Dong Y. (1987) Changes in protein metabolism in the soleus muscles of the scalded rats and the therapeutic effect of leucine and insulin (II). Journal of PLA Medical Colleges (Jan), 4: 1-9.
Huang T, Dong Y. (1987) Assay of the protein turnover rate for skeletal muscle. Biochem Biophys Acta (Chinese) (Jan), 11: 43-48.
"Mitochondrial-Related Retinopathy" ; National Eye Institute, NIH (2017)
"First Live birth derived from oocyte spindle transfer to prevent mitochondrial disease" Annual Meeting; American Society of Human Genetics (2017)
"Organizing Committee Member" 3rd Annual Congress on Rare Diseases and Orphan Drugs (2017)
"Mitochondria in Health & Disease" ; University at Buffalo (2017)
"Mitochondria in Health & Disease, Departmental Seminar" ; Indiana University (2017)
"Mitochondria in Health and Disease" Pediatric Grand Rounds; University at Buffalo (2017)
"Mitochondria in Health and Disease" Departmental Seminar; Indiana University (2017)
"Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy" Annual Meeting; ACMGG (2017)
"Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs" 2nd International Conference and Exhibition on Tissue Preservation and Bio-banking (2016)
"Can Left Ventricular Noncompaction be a Mitochondrial Disease?" ; Anzhen Hospital (2016)
"Cancer Genetics" Symposium of Quality Control Fuzhou Prenatal Screening and Diagnosis (2016)
"Current Status of Clinical Application of Genetic and Genomic Technologies" Symposium of Quality Control Fuzhou Prenatal Screening and Diagnosis (2016)
"Mitochondria and Precision Medicine" (2016)
"Mitochondria in Aging and iPS Cell Therapy" ; Nanchang University (2016)
"Mitochondria in Health and Disease" ; Zhejiang University (2016)
"Mitochondria in Health and Disease" ; Third Military Medical University (2016)
"Mitochondria in Health and Disease" ; Huaxi Hospital (2016)
"Mitochondria in Health and Disease" 2016 Summit on Rare Diseases (2016)
"Mitochondria in Health and Disease" ; Beijing University (2016)
"Mitochondria in Health and Disease" Global Chinese Geneticist Conference (2016)
"Mitochondria in Reproductive Medicine" World Congress of Assisted Reproductive Technologies (2016)
"Mitochondrial Replacement Therapy" Pediatric Development Forum & 2nd China-America Pediatric Summit Forum; Peking University (2016)
"Recent Advancement of Mitochondrial Replacement Therapy (MRT)" 2nd International Conference on Women and Children's Health (2016)