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, Genetics and Metabolism, Harvard Medical School (1999)
Fellowship, Harvard Medical School Howard Hughes Medical Institute (1999)
Residency, Pediatrics, George Washington University (1996)
Internship, Pediatrics, George Washington University (1994)
PhD, Biomedical Science, Mount Sinai Medical School (1991)
MS, Biochemistry, Third Military Medical College (1986)
MD, Medicine, Fujian Medical College (1983)
Postdoctoral Fellow, American Red Cross Jerome H. Holland Laboratory
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)
Grants and Sponsored Research:
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
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. Pathobiological Pseudohypoxia as a Putative Mechanism Underlying Myelodysplastic Syndromes. Cancer Discov. 2018; 8(11).
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. Metabolic rescue in pluripotent cells from patients with mtDNA disease. Nature. 2015; 524(7564).