Dr Agnes Rotig

Research Director at INSERM (Institut National de la Santé et de la Recherche Médicale), France

Email: agnes.rotig@inserm.fr

Dr. Rötig (PhD) is the head of the group working on mitochondrial diseases in Necker Hospital (Paris). This group has initially settled and integrated platform of clinic, biochemistry and molecular analysis to investigate patients with OXPHOS disease. The scientific field of this group is the identification of genes involved in mitochondrial disorders and the investigation of their pathophysiology. They have described the first non-neuromuscular presentation of mitochondrial diseases and characterized the very first mutations in nuclear genes resulting in defects of Krebs’s cycle or the respiratory chain.