About one in a thousand children is born with an impaired metabolism. This often results in brain damage. Wallenberg Clinical Scholar Anna Wedell, at Karolinska institutet, has made a hi-tech genetic survey that has revealed the molecular basis for several of these disorders. She is especially interested in monogenic diseases, diseases that are due to errors in a single gene. By combining the role of researcher and doctor, her findings can be quickly translated into care. Among other things, she and her team have been able to improve the condition of a severely brain-injured girl through a special dietary treatment.