| Citation | Kay Davies is internationally recognised for her work on Duchenne muscular dystrophy, the fragile X syndrome, and spinal muscular dystrophy. She was the first to map a gene (DMD) using random DNA markers, which made possible carrier detection and pre-natal diagnosis. She restored function in diseased muscle by direct injection of a DMD minigene. She discovered utrophin, the autosomal homologue of dystrophin, which when up-regulated also restored function in DMD muscle. Recent work includes the identification of dystrobrevin and syncoilin, and the demonstration that the viral delivery of utrophin can prevent the dystrophin phenotype in mice deficient for both genes. Kay Davies has been a pioneer in the application of molecular biology to the study and prevention of human genetic disease. |