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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(Left to right: Kalichi Kalu, vice Provost for International Affairs, OSU; Dr. Kevin Flanigan, principal investigator, Center for Gene Therapy, NCH; Nicolas Wein, post-doctoral fellow, NCH; Caroline Whitacre, vice president for Research, Professor, Department of Molecular Virology, Immunology and Medical Genetics, OSU)
Nicolas Wein, post-doctoral fellow in the Center for Gene Therapy, showcased his work, "Alternate translational initiation and amelioration of phenotype in the DMD gene", at The Seventh Annual International Scholar Research Exposition. The International Scholar Research Exposition showcases some of the world-class research undertaken by the more than 1,600 international visiting scholars at The Ohio State University. The exposition, held in November and December 2012, recognizes the scholars presence on campus and the significant contribution they make to the university and the global community.
(Left to right: Caroline Whitacre, vice president for Research, Professor, Department of Molecular Virology, Immunology and Medical Genetics, OSU; Dr. Gordon Gee, president, The Ohio State University; Adeline Vulin, post-doctoral fellow, Center for Gene Therapy, NCH; Dr. Kevin Flanigan, principal investigator, Center for Gene Therapy, NCH; Dieter Wanner, Associate Provost, OSU)
Adeline Vulin, post-doctoral fellow in the Center for Gene Therapy presented her work in November and December 2011 at The Sixth Annual International Scholar Research Exposition, titled, "Mutation-directed studies on the function of the dystrophin ZZ domain and challenges to skipping of duplicated exons in DMD". Vulin was among the world-class research by more than 1,600 international visiting scholars at The Ohio State University. Read more about the 2011 Scholar Research Exhibition.
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