Clinical Biochemical Genetics; Clinical Genetics; Clinical Molecular Genetics; Clinical Research; Genomics and proteomics; Inherited Metabolic Disorders; Metabolic Disorders; Metabolism; Molecular and Cellular Biology; Molecular Basis of Disease; Molecular diagnostics; Molecular genetics; Pediatric Genetics; Pediatrics
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.
Clinical Biochemical Genetics, Clinical Genetics, Clinical Molecular Genetics, Clinical Research, Genomics and proteomics, Inherited Metabolic Disorders, Metabolic Disorders, Metabolism, Molecular and Cellular Biology, Molecular Basis of Disease, Molecular diagnostics, Molecular genetics, Pediatric Genetics, Pediatrics
Children, Adolescents, Adults
This UBMD physician is also a member of the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo, teaching the next generation of doctors and researching to advance care in WNY and beyond. Learn more about this physician's research and teaching activities, as well as view credentials, publications, professional involvement and more below.