Rate My Professor Johan Van Hove

Johan Van Hove, MD, PhD, MBA, is a Professor in the Department of Pediatrics, Section of Clinical Genetics and Metabolism at the University of Colorado Anschutz Medical Campus School of Medicine. He earned his MD in 1986 and PhD in 1994 from the Catholic University of Leuven (Katholieke Universiteit Leuven) in Belgium, and completed an MBA at the University of Colorado Denver in 2006. Van Hove finished his fellowship in Clinical Genetics and Genomics at Duke University Hospital Program in 1995. He holds board certifications in Clinical Genetics and Genomics (initially 1993, recertified 2003) and Clinical Biochemical Genetics (initially 1993, recertified 2003). Joining the University of Colorado in 2003, he leads the Nonketotic Hyperglycinemia (NKH) Research Lab. He has focused primarily on NKH research since 1998, after initiating studies on the condition in 1991, and succeeded Stephen Goodman as Section Head of the section.

Van Hove's academic interests encompass neurometabolic diseases causing seizures, with particular emphasis on non-ketotic hyperglycinemia (NKH), exploring its genetic basis primarily in GLDC and AMT genes, clinical spectrum from neonatal epileptic encephalopathy to later-onset developmental delays, genotype-phenotype correlations for outcome prediction, pathogenesis involving glycine toxicity and folate methylation deficits in brain cells using patient samples and mouse models, and therapeutic developments such as protein stabilization with chaperones, methylation enhancement, and optimization of current therapies through clinical studies. His research also addresses pyridoxine-dependent epilepsy and metabolic epilepsies, mitochondrial energy disorders through clinical test development, new genetic cause identification, and treatment exploration, as well as disorders of lipoate metabolism. He has produced over 100 publications, including key works such as "Selvanathan A et al., The History and Nosology of the Glycine Disorders: A Framework for Clinicians" (J Inherit Metab Dis, 2026), "Friederich MW, Van Hove JLK, Clinical utility of the ATP hydrolysis assay for the diagnosis of complex V deficiency in cultured skin fibroblasts" (Mol Genet Metab, 2025), "Karaa A et al., RePOWER: An International, Prospective, Non-Interventional Registry of Patients With Primary Mitochondrial Myopathy" (Clin Genet, 2026), and the influential "Pompe disease diagnosis and management guideline" (Genet Med, 2006). Van Hove's contributions have advanced diagnosis and treatment strategies for these rare disorders.