We Mean Well: Treatment of Mendelian Disease

Genetic disease is important in developed societies and the inborn errors of metabolism are now among the best studied diseases of man. Their cause, pathogenesis and manifestations are extraordinarily well known. Nonetheless, treatment of this class of disease has been leis satisfactory than desired. Treatment must restore homeostasis; it fails to do this in the majority of the inborn errors. We need more knowledge which can be gained only by more research in man and animals. Transgenic studies (in animal models) will reveal aspects of pathogenesis long before they offer an opportunity for treatment in man. Transfection and transkaryotic studies will benefit some patients sooner. In the meantime, euphenic modes of treatment offer our best opportunities limited now more by insights on the problem and constraints on research to examine them than by the continuing challenge presented by our patients.