Genetic approaches for the diagnosis and treatment of inherited muscle diseases have advanced rapidly in recent years. Most of the advances have occurred in the treatment of Duchenne muscular dystrophy (DMD), a muscle wasting disease where patients present with difficulties walking upstairs around the age of 3-5 years and are typically wheelchair bound by age 12. Affected boys generally die from respiratory failure or cardiomyopathy in their twenties.
The identification of the gene causing DMD in 1986 resulted in improved diagnosis of the disease and the identification of hotspots for mutation. However there is currently no effective treatment.
Dame Kay explored several promising genetic approaches at the preclinical stage or in clinical trials including exon-skipping, read-through of stop codons, delivery of dystrophin minigenes and the modulation of expression of the dystrophin related protein, utrophin. In spite of significant progress, the problem of targeting all muscles including diaphragm and heart at sufficiently high levels remains a challenge. However, DMD therapy is at an exciting stage and the current status of development of these therapies was presented.