Kunkel Laboratory - Overview

The primary focus of our laboratory is the study of Duchenne's muscular dystrophy, a progressive disease that presents as striated muscle that leads to the breakdown of muscle structure and function. After our discovery of the muscular dystrophy gene, dystrophin, we have taken two major approaches to studying the different forms of the disease. The first approach is to analyze the unaffected function of the dystrophin-associated protein complex and conclude how manipulation of encoding genes within this complex causes the disease in various models. The second approach is based on the development of various lines of clinical therapies for patients affected by the disease. Different forms of clinical therapies are explored through drug and stem cell based discoveries. Currently we are classifying potential drug targets through microRNAs, drug screens in zebrafish deficient in the dystrophin gene, and through the characterization of genes. 

The Kunkel Laboratory has also expanded research efforts to include Interstitial Cystitis and Autism. Our research in IC has led us to discover five genetic loci that are directly linked to causative mutations of the disease. The continuation to advance work in Autism has lead to identification of new genes and insights into potential therapies. Using our Autism models, we have concluded that signature gene expressions that allow patients to be categorized might be identifiable and could lead us to finding causative genes. 

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Interstital Cystitis 

Duchenne's Muscular Dystrophy