Genes, Chromosomes, and Disease: From Simple Traits, to Complex Traits, to Personalized Medicine

9. Treating genetic disease

Robert Guthrie was born in the Ozarks in 1916.¹ He received both an MD and a PhD from the University of Minnesota and eventually joined the Department of Pediatrics where he was appointed Professor of Pediatrics and Microbiology. Guthrie mainly credited his niece, Margaret Doll, for inspiring him to campaign for newborn genetic testing and, perhaps even more significantly, for developing a method for detecting phenylketoneuria in infants. His niece, who was profoundly mentally retarded, was diagnosed as having phenylketoneuria at the age of 15 months, too late to prevent brain damage.

Guthrie succeeded in developing a simple test that would make screening of newborns for phenylketoneuria rapid and accurate.² He took ...