Jirair Bedoyan received his PhD in Cellular and Molecular Biology in 1996 from the University of Michigan in Dr. John Langmore’s laboratory where he characterized the nucleosomal organization of mammalian (rat) telomere. He completed postdoctoral work in Dr. Gerald Smith’s laboratory at the Fred Hutchinson Cancer Research Center studying meiotic recombination in fission yeast before pursuing an MD from Wayne State University School of Medicine (2004). Dr. Bedoyan then completed residencies in Pediatrics at Children's Hospital of Pittsburgh (2007) and Medical Genetics at the University of Michigan Medical Center (2010) and a fellowship in Clinical Biochemical Genetics at University Hospitals Cleveland Medical Center (UHCMC, 2014). Dr. Bedoyan is board certified by the American Board of Medical Genetics and Genomics in Clinical Genetics and Clinical Biochemical Genetics. Dr. Bedoyan is Associate Director of the Center for Human Genetics (CHG, Metabolism Section) at UHCMC. Dr. Bedoyan was Co-Director of the Center for Inherited Disorders of Energy Metabolism (CIDEM) at UHCMC from 2014-17 and Director since 2018. Dr. Bedoyan is Director of the Medical Biochemical Genetics Training Program at UHCMC. Dr. Bedoyan is site-PI on several industry- and government-funded clinical trials and research at CHG including the Urea Cycle Disorders Consortium (UCDC) and the North American Mitochondrial Disease Consortium (NAMDC).
Dr. Bedoyan’s clinical interests include disorders of pyruvate metabolism, disorders of tricarboxylic acid cycle, organic acidemias, urea cycle disorders and other related mitochondrial disorders.
Dr. Bedoyan’s immediate research interests include (1) application of high-throughput sequencing as a “hypothesis free” approach to identifying the genetic etiology of complex metabolic conditions, such as primary and secondary pyruvate dehydrogenase complex (PDC) deficiencies and other mitochondrial disorders, in order to improve diagnosis, management and design of future clinical trials of therapeutic interventions for such disorders; (2) piloting a newborn screening protocol using biomarkers and specific molecular tests for early diagnosis of primary-specific PDC deficient newborns/infants for early intervention with ketogenic diet or other novel treatments; (3) use of high throughput sequencing tools to optimize newborn screening for glutaric acidemia type I and other metabolic disorders; (4) understanding the toxicity mechanism(s) of certain accumulating acyl-CoAs and other metabolites in the pathophysiology of specific organic acidemias such as propionic and methylmalonic acidemias; and (5) application of machine learning and artificial intelligence in risk analysis of certain inborn errors of metabolism such as ornithine transcarbamylase deficiency and primary-specific PDC deficiency due to pathogenic variants in the X-linked OTC and PDHA1, respectively.