Our research has many goals, one of which is to characterize the genetic alteration responsible for the phenotype of our participants. In our past research, several new genes responsible for various forms of neuromuscular disease have been identified and/or studied. These include sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop clinical diagnostic tests which benefit patients and their families by providing accurate presymptomatic and/or prenatal tests. Genotype-phenotype correlation studies have increased our understanding of the natural history of these rare disorders benefiting patients through better prognostic determinations by clinicians. Biochemical and pathological analysis of muscle biopsies has led to new insights into disease pathophysiology which we hope will aid in finding treatments.

Part of our research entails identifying the genes which are increased or decreased in their expression in the different samples by comparing muscle biopsy samples. This should identify genes and gene pathways which are common to the pathogenesis of dystrophy and which are unique to a particular dystrophy. Our microarray research should lead to a better understanding of the disease process and possible ways to halt the process. The end point of these studies would be an accurate description of the disease pathogenesis.