SCIENCE radiation-induced mutations the biochemical activities of genes can be definitively studied in microorganisms which are peculiarly suited both to genetic and D f biochemical investigation. The researches undertaken all over the world along these lines have brilliantly demonstrated the CS -facts that many enzyme dysfunctions are indeed referable to specific mutant genes and that it is reasonable to presume that the production of normal enzymes is des a pendent on the activity of the normal py. unmutated alleles of these mutant genes.
der Metabolic BlocksFifty years ago, in 1908, Sir Archibald E. Garrod presented in England a most remarkable set of the Croonian lectures (1), setting forth a new concept of human disease, which he called "inborn errors of metabolism." Garrod was far ahead of his time in this concept, and it took many years for geneticists to appreciate the full significance of his contribution. The rapid and widespread development of medical genetics at the present time owes its inception to the recently renewed interest of human geneticists in Garrod's demonstration that, through mutation, the dysfunction of a gene-controlled enzyme necessary for normal metabolism is a basic mechanism in the production of genetic disease.The term "genetic disease" is used in this paper to apply broadly to any deviation from the usual or normal condition, for which a genetic basis can be established. I shall attempt to show that there are reasons for believing that genetics is involved in one way or another in the development of all disease.Garrod illustrated his concepts with his own basic studies of four human anomalies: albinism, alcaptonuria, cystinuria, and pentosuria. Today, both in experimental organisms and in man him-Dr. Snyder, retiring president of the AAAS, is president of the University of Hawaii, Honolulu.