Rikke Katrine Jentoft Olsen has a master degree in biology and a PhD in medicine from Aarhus University, Denmark. She currently hold a position as associated professor at the Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University and Aarhus University Hospital.
Rikke KJ Olsen has a longstanding interest in rare inborn errors of metabolism with focus on inborn errors of fatty acid oxidation (FAO). She is board member of the National Neonatal Screening Group in Denmark, and responsible for the genetic diagnostic service for FAO disorders, which is offered by Research Unit for Molecular Medicine to support metabolic departments and newborn screening centers worldwide.
Rikke KJ Olsen’s research is highly inspired by and integrated with this diagnostic service, through which she has access to accumulating samples and clinical/biochemical details on rare FAO disorders. Based on this material, her research group has identified new FAO disease genes, studied the detailed molecular consequences of gene variations and related them to phenotypes, and investigated how various cellular supplements can rescue the function of mutant FAO proteins and/or relieve the secondary mitochondrial dysfunction with oxidative stress that seems to be a hallmark of FAO disease progression. These studies have added to improved diagnostics and treatment of the patients.
Rikke KJ Olsen is currently collaborating with Professor Holger Prokisch, Genetics of Mitochondrial Disorders Group, Institute of Human Genetics, the Technical University Munich, on multi-omics diagnostic evaluation of unresolved FAO disorders.