Highway to HHGE: An Interview with Dame Kay E. Davies

Abstract

Davies: Before we discuss the HHGE report, your own research for pretty much four decades has been focused on Duchenne muscular dystrophy (DMD). What drew you into that field, and why is it still such a burning passion for you? Kay Davies: It started actually in London, when you were doing your graduate studies in the early 1980s, when Bob Williamson decided that he wanted to look at the possibility of using restriction fragment length polymorphisms (RFLPs) to map the cystic fibrosis (CF) gene. I joined his lab at the time because I'd just read the David Botstein paper 3 and the Solomon and Bodmer paper 4 about RFLPs and the more general application after Y.W. Kan's paper on sickle-cell DNA diagnosis. 5 Bob and I decided to collect all of the blood samples from CF patients in the UK. And when we got all those together, we realized what an enormous task it was because we were fishing in all those autosomes for a locus we knew nothing about. So, we decided that DMD was the model for CF, and actually the CF Trust funded me to do that work. And then I met the patients, and the rest is history because they got me hooked on finding both a diagnosis and then potentially a therapy for the disease.