Anna Wedell, MD, PhD, is a Clinical Geneticist and Professor of Medical Genetics at the Department of Molecular Medicine & Surgery and Science for Life Laboratory (SciLifeLab), Karolinska Institutet, and Head of the Centre for Inherited Metabolic Diseases (CMMS) at Karolinska University Hospital. Her multidisciplinary team provides nationwide diagnostics, including newborn screening, as well as expert clinical advice on all aspects of inherited metabolic diseases. A strong focus is on mitochondrial medicine, where in-house methods for detailed biochemical evaluation of live muscle mitochondria have been developed. During 2010 – 2013, she was Clinical Director at SciLifeLab in Stockholm, establishing a collaboration for development of tools and workflows for clinical whole genome sequencing which has subsequently been implemented at the Karolinska University Hospital, forming the basis for the Genomic Medicine Center Karolinska (GMCK) Rare Diseases, chaired by Wedell. Results are dramatic as large numbers of patients now receive specific molecular diagnoses and treatment in early disease stages, improving outcome. Wedell has discovered a number of novel monogenic diseases affecting brain metabolism, opening novel avenues for treatment. In 2015, she established a KI-Max Planck laboratory for Molecular Metabolism at Karolinska Institutet, together with Professor Nils-Göran Larsson and Dr Anna Wredenberg. Anna Wedell is a member of the Nobel Committee for Physiology and Medicine and served as its chairman during 2016-2018. She is also a member of the Royal Swedish Academy of Sciences and the Royal Swedish Academy of Engineering Sciences.