This Month in Muscular Dystrophy

Guest: Jerry Mendell, MD, is Director of the Center for Gene Therapy in The Research Institute, Director of the Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, and Curran-Peters Chair of Pediatric Research at Nationwide Children’s Hospital. He is also an attending neurologist at Nationwide Children’s and a professor of pediatrics and neurology at The Ohio State University College of Medicine. • View the published abstract for this month’s featured research article. • Learn more about the gene therapy trial for Becker Muscular Dystrophy.

Guest Host: Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy in The Research Institute at Nationwide Children’s Hospital. Guest: Kevin Flanigan, MD, principal investigator in the Center for Gene Therapy, is also an attending neurologist at Nationwide Children’s and professor of Pediatrics and Neurology at The Ohio State University College of Medicine. View the published abstract for this month’s featured research article. Learn more about the Flanigan Lab and their research.

Guest: Louise Rodino-Klapac, PhD, is a principal investigator in the Center for Gene Therapy in The Research Institute at Nationwide Children’s Hospital. She is also an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. • View the published abstract for this month’s featured research article. • Learn more about Dr. Rodino-Klapac’s gene therapy research for muscular dystrophies.

Guest: Scott Harper, PhD, is a principal investigator in the Center for Gene Therapy in The Research Institute and the Neuromuscular Disorders program at Nationwide Children’s Hospital. He is also a faculty member for the Child Neurology Residency program at Nationwide Children’s and an assistant professor in the Department of Pediatrics at The Ohio State University College of Medicine. • View the published abstract for this month’s featured research article. • Learn more about Dr. Harper’s research on neuromuscular disorders.

Dr. Brian Kaspar Discusses a New Method for Studying ALS, with Potential to Test Therapeutics in Individual Patients :: April 2014 Guest: Brian Kaspar, PhD, is a principal investigator in the Center for Gene Therapy and the first recipient of the Grant Morrow, III, MD, Endowed Chair in Pediatric Research in The Research Institute at Nationwide Children’s Hospital. He is also an associate professor in the departments of Pediatrics and Neuroscience at The Ohio State University College of Medicine, and a recognized national expert in the discovery of new therapies for spinal muscular atrophy and amyotrophic lateral sclerosis.

Dr. Louis Chicoine Discusses the Effect of Plasmapheresis in Removal of AAV Antibodies for Gene Therapy :: November 2013 Guest: Louis Chicoine, MD, principal investigator in the Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital; assistant professor of Pediatrics at The Ohio State University College of Medicine. Access an abstract of this month’s featured research article: Plasmapheresis eliminates the negative impact of AAV antibodies on micro-dystrophin gene expression following vascular delivery. Molecular Therapy. 2013 Oct 23. [Epub ahead of print] Major contributors to the work described include the Jesse’s Journey Foundation, the Nationwide Children’s Hospital Foundation, the Muscular Dystrophy Association, a National Institutes of Health grant (U54 NS055958), and a Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center grant (U54 HD066409).

Dr. Volker Straub Discusses the Use of Muscle MRI in Muscular Dystrophy Guest: Volker Straub, MD, PhD, Harold Macmillan Professor of Medicine and Professor of neuromuscular genetics at the University of Newcastle upon Tyne in the United Kingdom. Access an abstract of this month’s featured research articles: - Quantitative Muscle MRI as an Assessment Tool for Monitoring Disease Progression in LGMD2I: A Multicentre Longitudinal Study. PLoS One. 2013 Aug 14, 8(8):e70993. - MR imaging in Duchenne muscular dystrophy: Longitudinal assessment of natural history over 18 months. Muscle Nerve. 2013 Apr 26.

Dr. Jeff Chamberlain Discusses Gene and Cell Mediated Therapies for Muscular Dystrophy Guest: Jeff Chamberlain, PhD, McCaw Chair in Muscular Dystrophy and Professor in the departments of neurology, medicine and biochemistry at the University of Washington. Access an abstract of this month’s featured article: Gene and cell-mediated therapies for muscular dystrophy. Muscle Nerve. 2013 May, 47(5):649-63. Epub 2013 Mar 29.

Dr. Paul Martin Discusses Galgt2 Gene Therapy for Muscular Dystrophy Guest: Paul T. Martin, principal investigator, Center for Gene Therapy and Neurosciences Center, The Research Institute at Nationwide Children’s Hospital. Access an abstract of this month’s featured research article: AOverexpression of Galgt2 in skeletal muscle prevents injury resulting from eccentric contractions in both mdx and wild-type mice. American Journal of Physiology - Cell Physiology. 2009 Mar, 296(3):C476-88. Epub 2008 Dec 24.

Dr. Louise Rodino-Klapac Discusses Alpha 7 Integrin As A Therapeutic Approach to Muscular Dystrophy Guest: Louise Rodino-Klapac, PhD, principal investigator, Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital. Access an abstract of this month’s featured research article: AAV-mediated Overexpression of Human a7 Integrin Leads to Histological and Functional Improvement in Dystrophic Mice. Mol Ther. 2013 Mar;21(3):520-5. doi: 10.1038/mt.2012.281. Epub 2013 Jan 15.

Dr. James Ervasti Discusses Stability of Therapeutic Forms of Dystrophin :: January 2013 Guest: Dr. James Ervasti, PhD, Department of Biochemistry, Molecular Biology and Biophysics, University of Minnesota Access an abstract of this month’s featured research article: Hum Mol Genet. 2011 Aug 1;20(15):2955-63. doi: 10.1093/hmg/ddr199. Epub 2011 May 10.

Dr. Federica Montanaro Discusses New Cardiac Dystrophin Associated Proteins :: December 2012 Guest: Dr. Federica Montanaro, PhD, principal investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital Access an abstract of this month’s featured research article: Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins. PLoS One. 2012;7(8):e43515.

Professor Francesco Muntoni Discusses Congenital Muscular Dystrophies Guest: Professor Francesco Muntoni, Chair of Paediatric Neurology, United College London Institute of Child Health, Dubowitz Neuromuscular Centre Access an abstract of this month’s featured research article: The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012 Jul;72(1):9-17.

Dr. Louise Rodino-Klapac Discusses Advances in Dysferlin Gene Therapy Guest: Louise Rodino-Klapac, PhD, principal investigator, Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital Access an abstract of this month’s featured research article: Homologous Recombination Mediates Functional Recovery of Dysferlin Deficiency following AAV5 Gene Transfer. PLoS One. 2012;7(6):e39233. Epub 2012 Jun 15.

Dr. Hugh Allen Discusses Cardiomyopathy in Duchenne Muscular Dystrophy Guest: Hugh Allen, MD, principal investigator, Center for Gene Therapy Access an abstract of this month’s featured research article: Effects of Angiotensin-Converting Enzyme Inhibitors and/or Beta Blockers on the Cardiomyopathy in Duchenne Muscular Dystrophy. Am J Cardiol. 2012 Mar 29.

Dr. Jerry Mendell Discusses Newborn Screening in Duchenne Muscular Dystrophy :: April 2012 Guest: Jerry Mendell, MD, director, Center for Gene Therapy, The Research Institute at Nationwide Children’s Hospital. Access an abstract of this month’s featured research article: Evidence-based path to newborn screening for duchenne muscular dystrophy. Ann Neurol. 2012 Mar;71(3):304-13.

Dr. Thomas Voit Discusses Gamma Sarcoglycan Gene Therapy :: March 2012 Guest: Thomas Voit, medical and scientific director, Institut de Myologie, Paris, France Access an abstract of this month’s featured research article: A phase I trial of adeno-associated virus serotype 1-?-sarcoglycan gene therapy for limb girdle muscular dystrophy type 2C. Brain. 2012 Feb;135(Pt 2):483-92.

Dr. Arthur Burghes discusses antisense oligomer treatment in an SMA mouse model Guest: Arthur Burghes, PhD, professor of Molecular and Cellular Biochemistry, Molecular Genetics and Neurology, The Ohio State University

Guest: Professor Steve Wilton, Australian Neuromuscular Research Institute, The University of Western Australia Access an abstract of this month’s featured research article: Dystrophin isoform induction in vivo by antisense-mediated alternative splicing. Mol Ther. 2010 Jun;18(6):1218-23.

Guest: Denis Guttridge, PhD, Associate Professor, Molecular Virology, Immunology and Medical Genetics, The Ohio State University Access an abstract of this month’s featured research articles: Improvement of cardiac contractile function by peptide-based inhibition of NF-?B in the utrophin/dystrophin-deficient murine model of muscular dystrophy. J Transl Med. 2011 May 17;9:68. doi: 10.1186/1479-5876-9-68. Peptide-based inhibition of NF-?B rescues diaphragm muscle contractile dysfunction in a murine model of Duchenne muscular dystrophy. Mol Med. 2011 May-Jun;17(5-6):508-15. doi: 10.2119/molmed.2010.00263.