Seminar: Whole genome sequencing in clinical medicine in the era of Big Data
Anna Wedell, MD, PhD,is a Professor of Medical Genetics at the Department of Molecular Medicine and Surgery at Karolinska Institutet, and Head of the Centre for Inherited Metabolic Diseases at Karolinska University Hospital.
Her team provides nationwide diagnostics and expert advice on all aspects of inherited metabolic diseases. She has implemented whole genome sequencing for clinical diagnosis of monogenic disorders, with dramatic consequences 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.
Anna Wedell is Chairman of the Medical Nobel Committee, member of the Royal Swedish Academy of Sciences, and member of the Royal Swedish Academy of Engineering Sciences.
Read our interview with Anna »