BETHESDA, Md. -- The American Society of Human Genetics (ASHG) has named Kay E. Davies, DPhil, Dr. Lee's professor of anatomy, associate head of the medical sciences division; and director of the Medical Research Council Functional Genomics Unit in the department of physiology, anatomy and genetics at the University of Oxford, the 2015 recipient of the annual William Allan Award.
The Allan Award, which recognizes a scientist for substantial and far-reaching scientific contributions to human genetics, was established in 1961 in memory of William Allan, M.D. (1881-1943), one of the first American physicians to conduct extensive research on human genetics and hereditary diseases. Davies will receive her award, which will include an engraved medal and monetary prize, on Friday, October 9, during ASHG's 65th Annual Meeting in Baltimore. She will present her William Allan Award address immediately thereafter.
Davies led early research into Duchenne Muscular Dystrophy (DMD), a genetic disorder marked by muscle weakness that progresses rapidly. In the 1980s, her research group identified genetic markers that allow prenatal diagnosis and carrier status determination of DMD and mapped the gene coding for DMD to a specific location on the X chromosome. They also described the gene's size and deletions in the DNA associated with disease, including a very large deletion of the gene coding for the protein dystrophin found in a patient with mild disease. Follow-up research showed that in mice, introducing the smaller dystrophin gene could prevent disease progression. These observations pioneered the development of dystrophin "minigenes" for the treatment of DMD in people.
Davies' work also led to the characterization of the protein utrophin, a relative of dystrophin. Her group showed that, in mice, increasing utrophin levels could prevent disease. More recently, Davies has developed drugs that increase utrophin levels in mice and is pursuing these as an approach to treat DMD in humans. Unlike some existing therapeutics, which are effective only in a small number of DMD patients, this strategy would be applicable to all patients.
Her laboratory also uses mouse models to study other neurogenetic diseases, such as schizophrenia and amyotrophic lateral sclerosis (ALS), with a focus on genes that affect the course of disease and clinical outcomes.
A longtime member of ASHG, Davies served on the Society's Board of Directors from 2011-2013 and currently serves as chair of its nominating committee. She has published 384 peer-reviewed papers, won numerous awards and delivered several special lectures at various institutions. In 2012, she was awarded honorary membership of the Genetics Society in recognition of her contributions to the field.