Kevin M. Flanigan Lab :: The Research Institute at Nationwide Children's Hospital

Flanigan Laboratory

Flanigan Lab Group Photo October 2014

Led by Kevin Flanigan, MD, the Flanigan Lab focuses on the genetic and molecular characterization of inherited neuromuscular diseases, and toward the development of therapies directed toward these diseases. A major focus of the laboratory concerns genotype/phenotype correlation in dystrophinopathies (Duchenne and Becker Muscular Dystrophy), with the intention of increasing our understanding of the pathogenesis in this disease and translating this understanding into improved therapies. For example, studies of rare patient mutations have generated hypotheses regarding function of the dystrophin protein, now under study in the lab.

Other projects in the lab are dedicated to the molecular characterization of both rare and common neurologic syndromes. One such disorder is giant axonal neuropathy, a rare inherited disorder characterized by degeneration of peripheral nerves with giant axonal swelling full of disorganized neurofilaments. Recent disease gene mapping projects have characterized gene loci responsible for an uncommon form of congenital muscular dystrophy, a novel form of hereditary spastic paraplegia, and a novel form of juvenile recessive amyotrophic lateral sclerosis. The goal of the laboratory is a better understanding and improved treatment of these and related diseases.

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