Steven Moore, MD, PhD
Introduction
Muscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. Dr. Moore is involved in the evaluation of patient biopsies and in research partially funded through a center grant from NIH. This Paul D. Wellstone Muscular Dystrophy Cooperative Research Center is exploring therapeutic strategies for the treatment of various muscular dystrophies by enabling translational research on muscular dystrophies and providing advanced diagnostic services. The MDCRC is composed of two research projects, three cores and investigators with a proven track record of excellence and collaboration. The Center researchers' studies and facilities will explore basic biological mechanisms that relate to possible treatments for muscular dystrophies, facilitate translational research on muscular dystrophies and provide advanced diagnostic services to patients and clinical trial participants. The Director and Co-director, Kevin Campbell and Steven Moore, are investigators with established records in basic, translational, and clinical research on muscular dystrophy.
Additional basic science collaboration with Dr. Kevin Campbell, Department of Molecular Physiology and Biophysics ( The Laboratory of Dr. Kevin P. Campbell) involves the pathologic characterization of genetic mouse models of muscular dystrophy. Many of these models use Cre-lox methodology to selectively knock out brain or peripheral nerve dystroglycan. These mice model congenital muscular dystrophy. A second basic science collaboration is with Lori Wallrath (Department of Biochemistry, The University of Iowa) studying lamin A/C.
Including the Wellstone MDCRC mentioned above, clinical diagnostic work in the general area of muscular dystrophies has expanded into basic and clinical research projects in collaboration with several physicians at other institutions, Kevin Campbell, and Kathy Mathews (Department of Pediatrics, The University of Iowa). Current clinical studies involve: (1) a natural history study of patients with dystroglycanopathy, (2) a search for new genes in congenital myopathy and muscular dystrophy patients, (3) dysferlinopathy patients with amyloid deposition, (4) autophagic vacuolar myopathy patients, and (5) improvements in diagnostic testing.
Current Positions
- Professor of Pathology
- Director of Neuropathology
- Co-Director, Wellstone Muscular Dystrophy Cooperative Research Center
Education
- BS, Purdue University
- PhD in Anatomy, Indiana University
- MD, Indiana University School of Medicine
- Resident in Pathology, University of Iowa College of Medicine
- Fellow in Neuropathology, University of Iowa College of Medicine
Graduate Program Affiliations
Center, Program and Institute Affiliations
Research Interests
- Gliovascular dystrophin-glycoprotein complex
- LARGEmyd mice
- Dystroglycan Complexes in Cerebral Vascular Biology
- Best Practices Group for FSHD testing
- Dystroglycan Complexes in Brain Development
- CNS dysgenesis in muscular dystrophy
- Limb-girdle and congenital muscular dystrophies (LGMD) and CMD)
- Dystroglycan Complexes in Neuromuscular Disease
- Muscular Dystrophy - Human disease and animal models
- Astrocyte and Schwann cell dystroglycan as a platform for the localization of ion and water channels
Licenses & Certifications
- Neuropathology, American Board of Pathology
- Anatomic Pathology, American Board of Pathology
- State of Iowa Medical License, Iowa Board of Medicine, Iowa
Selected Publications
- Pickup E, Moore SA, Suwannarat P, Grant C, New NA, Gropman A, Sen K. (2024) Expedited exome reanalysis following deep phenotyping and muscle biopsy in suspected mitochondrial disorder. Pediatr Neurol. Apr 12: 156:178-181. DOI: 10.1016/j.pediatrneurol.2024.04.007. PMID: 38788280.
- Alexander G, Moore SA, Lenert PS. (2024) Eosinophilic granulomatosis with polyangiitis and its association with montelukast: a case-based review. Clin Rheumatol. Jun; 43(6):2153-2165. DOI: 10.1007/s10067-024-07000-8 PMID: 38720163.
- Giardina E, Camaño P, Burton-Jones S, Ravenscroft G, Henning F, Magdinier F, van der Stoep N, van der Vliet PJ, Bernard R, Tomaselli PJ, Davis MR, Nishino I, Oflazer P, Race V, Vishnu VY, Williams V, Sobreira CFR, van der Maarel SM, Moore SM, Voermans NC, Lemmers RJLF. (2024) Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines. Clin Genet. Apr 29. DOI: 10.1111/cge.14533. PMID: 38685133.
- Prakash S, Moore S, Snow A, Brown KE. (2023) Elevated aminotransferases in a 62-year-old woman. Cleve Clin J Med. Nov 1; 90(11):669-674. DOI: 10.3949/ccjm.90a.23011. PMID: 37914204.
- Marcelot, A., Rodriguez-Tirado, F., Cuniasse, P., Joiner, M. L., Miron, S., Soshnev, A. A., Fang, M., Pufall, M. A., Mathews, K. D., Moore, S. A., Zinn-Justin, S. & Geyer, P. K. (2023). A De Novo Sequence Variant in Barrier-to-Autointegration Factor Is Associated with Dominant Motor Neuronopathy. Cells 12 (6) 847. DOI: 10.3390/cells12060847. PMID: 36980188.
- Inoue, K., Bostan, H., Browne, M. R., Bevis, O. F., Bortner, C. D., Moore, S. A., Stence, A. A., Martin, N. P., Chen, S. H., Burkholder, A. B., Li, J. L. & Shaw, N. D. (2023). DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose. Sci Adv 9 (7) eabq7744. DOI: 10.1126/sciadv.abq7744. PMID: 36800423. PMCID: PMC9937577.
- Menezes, A. H., Sato, Y., Dlouhy, B. J., Jones, K. A. & Moore, S. A. (2023). Ventriculus terminalis cyst in an infant: a case report. Case Reports 17 (1) 22. DOI: 10.1186/s13256-023-03759-7. PMID: 36683067. PMCID: PMC9869499.
- Soderstrom, C. I., Larsen, J., Owen, C., Gifondorwa, D., Beidler, D., Yong, F. H., Conrad, P., Neubert, H., Moore, S. A. & Hassanein, M. (2022). Development and Validation of a Western Blot Method to Quantify Mini-Dystrophin in Human Skeletal Muscle Biopsies. AAPS J 25 (1) 12. DOI: 10.1208/s12248-022-00776-0. PMID: 36539515. PMCID: PMC10034579.
- De la Garza-Rodea, A. S., Moore, S. A., Zamora-Pineda, J., Hoffman, E. P., Mistry, K., Kumar, A., Strober, J. B., Zhao, P., Suh, J. H. & Saba, J. D. (2022). Sphingosine Phosphate Lyase Is Upregulated in Duchenne Muscular Dystrophy, and Its Inhibition Early in Life Attenuates Inflammation and Dystrophy in Mdx Mice. Int J Mol Sci 23 (14) 7579. DOI: 10.3390/ijms23147579. PMID: 35886926. PMCID: PMC9316262.