Kunkel Laboratory Research | Overview
Welcome to the Kunkel Laboratory!
Division of Genetics and Genomics at Boston Children's Hospital
The primary focus of the Kunkel laboratory is the study of muscle diseases, including Duchenne Muscular Dystrophy(DMD), a progressive muscle wasting disease that affects about 1 in 3500 male births. Since our initial discovery of the DMD gene, we have dedicated over 30 years of research to investigating disease mechanisms, working on diagnostic testing and potential treatments for families with muscle diseases. We use animal models including mice and zebrafish to study muscle pathophysiology and design new treatments. Currently the lab is focused on investigating known genetic modifiers of the disease for use as potential therapy.
The Kunkel laboratory also has research efforts in interstitial cystitis and autism spectrum disorder (ASD). Interestingly, about 1 in 5 boys with DMD also presents with ASD, a much higher prevalence than in the general male population of 1 in 37. This has led us to investigate a potential role of dystrophin absence in the development of ASD.
Please see the links to the left for more information.