Principal Investigator, Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, Columbus, OH

Adjunct Associate Professor, University of Utah School of Medicine, Department of Pathology, Salt Lake City, UT

Adjunct Associate Professor, University of Utah School of Medicine, Department of Pediatrics, Salt Lake City, UT

Associate Professor, University of Utah School of Medicine, Department of Neurology, Salt Lake City, UT

Adjunct Associate Professor, University of Utah, Department of Human Genetics, Salt Lake City, UT

Dr. Flanigan's primary interest is in 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.

Flanigan, K. M., D. M. Dunn, A. von Niederhausern, P. Soltanzadeh, E. Gappmaier, M. T. Howard, J. B. Sampson, J. R. Mendell, C. Wall, W. M. King, A. Pestronk, J. M. Florence, A. M. Connolly, K. D. Mathews, C. M. Stephan, K. S. Laubenthal, B. L. Wong, P. J. Morehart, A. Meyer, 2009. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 30:1657-66.

Flanigan, K. M., D. M. Dunn, A. von Niederhausern, M. T. Howard, J. Mendell, A. Connolly, C. Saunders, A. Modrcin, M. Dasouki, G. P. Comi, R. Del Bo, A. Pickart, R. Jacobson, R. Finkel, L. Medne, and R. B. Weiss. 2009. DMD Trp3X nonsense mutation associated with a founder effect in North American families with mild Becker muscular dystrophy. Neuromuscul Disord 19:743-8.

Butterfield, R. J., D. Ramachandran, S. J. Hasstedt, B. E. Otterud, M. F. Leppert, K. J. Swoboda, and K. M. Flanigan. 2009. A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. Neuromuscul Disord 19:279-87.

Gurvich, O. L., B. Maiti, R. B. Weiss, G. Aggarwal, M. T. Howard, and K. M. Flanigan. 2009. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Hum Mutat 30:633-40.

Maiti, B., S. Arbogast, V. Allamand, M. W. Moyle, C. B. Anderson, P. Richard, P. Guicheney, A. Ferreiro, K. M. Flanigan, and M. T. Howard. 2009. A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy. Hum Mutat 30:411-6.

Gurvich, O.L., Tuohy, T.M., Howard, M.T., Finkel, R.S., Medne, L., Anderson, C.B., Weiss, R.B., Wilton, S.D., Flanigan, K.M. (2008) DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann Neurol., 2008 Jan;63(1):81-9.