KEVIN M. FLANIGAN
Kevin Flanigan
e-mail: kevin.flanigan@genetics.utah.edu		 Associate Professor of Neurology
Adjunct Associate Professor of Human Genetics
Adjunct Assistant Professor of Pediatrics and Pathology

Neurobiology of Disease
Molecular Neuroscience

B.M. 1986, University of Illinois, Urbana; M.D. 1990, Rush Medical College, Chicago; 1990-1991, Internal Medicine, University of Michigan; 1991-1994, Resident in Neurology, Johns Hopkins Hospital; 1994-1995, Fellow in Neuromuscular Disease, Johns Hopkins Hospital; 1995-1997, Postdoctoral Training in Neurogenetics, University of Utah.

RESEARCH:

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. In addition, studies of several large Utah families with essential tremor (the most common form of movement disorder) are under way. The goal of the laboratory is a better understanding and improved treatment of these and related diseases.

Selected Publications

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. (2007) DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy. Ann Neurol., Dec 4; [Epub ahead of print].

Lawson, V.H., Graham, B.V., and Flanigan, K.M. (2005) Clinical and electrophysiologic features of CMT2A with novel mutations in the Mfn2 Gene. Neurology, 65:197-204.

Howard, M.T., Aggarwal, G., Anderson, C.B., Khatri, S., Flanigan, K.M., Atkins, J.F. (2005) Recoding elements located adjacent to a subset of eukaryal selenocysteine-specifying UGA codons. EMBO J., Mar 24.

Dent, K.M., Dunn, D.M., von Niederhausern, A.C., Aoyagi, A.T., Kerr, L., Bromberg, M.B., Tuohy, T., White, S., den Dunnen, J.T., Weiss, R.B., and Flanigan, K.M. (2005) Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genetics 134A:295-298.

Howard, M.T., Anderson, C.B., Fass, U., Khatri, S., Gesteland, R.F., Atkins, J.F., and Flanigan, K.M. (2004) Readthrough of dystrophin stop codon mutations induced by aminoglycoside compounds. Ann Neurol, Mar;55(3):422-426.

Winokur, S.T., Szabo, P.E., Chen, Y.-W., van der Maarel, S., Tapscott, S.J., Martin, J., Chung, S.-A., Ehmsen, J.T., and Flanigan, K.M. (2003) Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. Hum Mol Genet., Nov 15;12(22):2895-2907.

Flanigan, K.M., von Niederhausern, A., Dunn, D., Alder, J., Mendell, J., and Weiss, R. (2003) Rapid Sequence Analysis of the Dystrophin Gene. American Journal of Human Genetics, 72:931-939.

Brockmann, K., Pouwels, P.J., Dechent, P., Flanigan, K.M., Frahm, J., and Hanefeld, F. (2003) Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. Brain Dev., Jan;25(1):45-50.

Flanigan, K.M., Coffeen, C., Sexton, L., Brunner, S.L., Stauffer, D., and Leppert, M. (2001) Genetic Characterization of a Large, Historically Significant Utah Family with Facioscapulohumeral Dystrophy. Neuromuscular Disorders, 11:525-529.

Howard, M.T., Shirts, B H., Petros, L.M., Flanigan, K.M., Gesteland, R.F., and Atkins, J.F. (2000) Sequence Specificity of Aminoglycoside Induced Stop Codon Readthrough: Potential Implications for Treatment of Duchenne Muscular Dystrophy. Annals of Neurology, 48:164-169.

Flanigan, K.M., Kerr, L., Bromberg, M.B., Leonard, C., Tsuruda, J., Zhang, P., Cohn, R., Campbell, K., and Leppert, M. (2000) Congenital Muscular Dystrophy with Rigid Spine Syndrome: A Clinical, Pathological, Radiologic, and Genetic Study. Annals of Neurology, 47(2):152-161.

Flanigan, K.M., Crawford, T.O., Griffin, J., Goebel, H.H., Kohlschutter, A., Ranells, J., Camfield, P.R., and Ptacek, L.J. (1998) Localization of the Giant Axonal Neuropathy Gene to Chromosome 16q24. Annals of Neurology, 43(1):143-148.

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