Catarina Olimpio, MD

Catarina is a Clinical Fellow and MPhil student at the Horvath Lab, as well as a Clinical Genetics Specialty Registrar. She completed a BSc (Hons) in Human Genetics at the University of Leeds in 2005, followed by an MSc in Prenatal Genetics and Fetal Medicine at University College London in 2006. Catarina went on to study graduate-entry Medicine at the University of Warwick, earning her MBChB in 2011. She subsequently completed Foundation Training in North London and core Paediatric training in the East of England. Catarina has significant experience in rare disease genetics and her research interests are in gene discovery, genotype-phenotype correlations and therapeutic trials in rare disease, in particular mitochondrial disorders. For her MPhil, she is investigating mitochondrial-nuclear epistasis by analysing genomic data to explore interactions between nuclear and mitochondrial DNA and their contributions to disease. In parallel, she is conducting a natural history study of MTRFR-related disease contributing to a better understanding of this ultra-rare disease.