Discovering new disease pathways affecting mtDNA metabolism
My research project (MITOBIOPATH) is focused on defects of mitochondrial DNA (mtDNA) metabolism (maintenance, integrity and expression), the most common cause of multiple mitochondrial respiratory chain defects in children.
I am a Clinical Geneticist with a medical degree and PhD in Human Genetics. I have been awarded a European Commission Marie Curie Individual Research Fellowship that will allow me to establish my research career in Europe. The aim of my project is to discover new mitochondrial disease genes and proteins in a large cohort of paediatric patients by applying unbiased whole exome screening, and to elucidate new disease-associated metabolic pathways in cellular and in vivo (mouse and zebrafish) models - key steps towards the development of new treatment strategies. The results will impact on research in mitochondrial disorders and will expand my interest in other neurodegenerative disorders.
My previous research, carried out in the USA, was focused on the identification of molecular defects associated with impaired mtDNA metabolism, the elucidation of the underlying pathomechanisms and the development of new treatment strategies.