Molecular Analysis of Patients With Neuromuscular Disease

We aim to identify and characterize the genetic changes responsible for the neuromuscular diseases found in our participants and their families. Our research lab has a long history of identifying novel genes responsible for various forms of neuromuscular disease including; dystrophin, the sarcoglycans, obscurin, and filamin. Each discovery has resulted in advances in our ability to develop diagnostic tests which benefit patients and their families by providing accurate diagnosis, presymptomatic and/or prenatal testing. 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 in patient with known and unknown types of neuromuscular disease has led to new insights into disease pathophysiology which we hope will aid in finding treatments.