Matthew E. R. Butchbach, PhD

Head - Motor Neuron Diseases Research Laboratory

Biography

Matthew E. R. Butchbach, PhD, is a Research Scientist and heads the Motor Neuron Diseases Research Laboratory. He is affiliated with the Centers for Applied Clinical Genomics and Pediatric Research within the Nemours Biomedical Research department. He is a Research Assistant Professor in the Department of Pediatrics at Thomas Jefferson University and Affiliated (Adjunct) Assistant Professor in the Department of Biological Sciences at the University of Delaware. Dr. Butchbach obtained his doctorate in biochemistry and neuroscience from The Ohio State University and completed his postdoctoral training in translational neurogenetics at The Ohio State University under Dr. Arthur H. M. Burghes. The Motor Neuron Diseases Research Laboratory focuses on understanding the molecular mechanisms underlying early-onset motor neuron diseases like spinal muscular atrophy and on using this information to develop and test novel therapeutic agents. His research is supported by the Nemours Foundation, the National Institutes of Health and grants from the pharmaceutical industry. Dr. Butchbach is very active in undergraduate research at the University of Delaware and in the Delaware chapter of the Society for Neuroscience. Dr. Butchbach also serves as an associate editor for BMC Genomics.

Education & Training

Medical/Dental School

BS - Ohio University, biochemistry, biological sciences, 1995
BA - Ohio University, French, 1995
MS - Ohio State University, biochemistry, 2000
PhD - Ohio State University, biochemistry, neuroscience, 2003
postdoctoral - Ohio State University, translational neurogenetics, 2003-2008

Stabley, D. L., Holbrook, J., Scavina, M., Crawford, T. O., Swoboda, K. J., Robbins, K. M., & Butchbach, M. E. R. (2021). Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR. Neurogenetics, 22(1), 53-64. doi:10.1007/s10048-020-00630-5
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Butchbach, M. E. R. (2021). Genomic variability in the survival motor neuron genes (Smn1 and smn2): Implications for spinal muscular atrophy phenotype and therapeutics development. International Journal of Molecular Sciences, 22(15). doi:10.3390/ijms22157896
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Jiang, L., Lin, R., Gallagher, S., Zayac, A., Butchbach, M. E. R., & Hung, P. (2020). Development and validation of a 4-color multiplexing spinal muscular atrophy (SMA) genotyping assay on a novel integrated digital PCR instrument. Scientific Reports, 10(1). doi:10.1038/s41598-020-76893-7
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Chen, X., Sanchis-Juan, A., French, C. E., Connell, A. J., Delon, I., Kingsbury, Z., & NIHR BioResource. (2020). Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genetics in Medicine, 22(5), 945-953. doi:10.1038/s41436-020-0754-0
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Butchbach, M. E. R. (2018). Using systems biology and mathematical modeling approaches in the discovery of therapeutic targets for spinal muscular atrophy. In Advances in Neurobiology (Vol 21, bll 267-281). doi:10.1007/978-3-319-94593-4_10
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Stabley, D. L., Holbrook, J., Harris, A. W., Swoboda, K. J., Crawford, T. O., Sol-Church, K., & Butchbach, M. E. R. (2017). Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR. Neuromuscular Disorders, 27(5), 439-446. doi:10.1016/j.nmd.2017.02.002
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Gentillon, C., Connell, A. J., Kirk, R. W., & Butchbach, M. E. R. (2017). The effects of C5-substituted 2,4-diaminoquinazolines on selected transcript expression in spinal muscular atrophy cells. PLoS ONE, 12(6). doi:10.1371/journal.pone.0180657
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Edwards, J. D., & Butchbach, M. E. R. (2016). Effect of the Butyrate Prodrug Pivaloyloxymethyl Butyrate (AN9) on a Mouse Model for Spinal Muscular Atrophy. Journal of Neuromuscular Diseases, 3(4), 511-515. doi:10.3233/JND-160187
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Butchbach, M. E. R. (2016b). Copy number variations in the survival motor neuron genes: Implications for spinal muscular atrophy and other neurodegenerative diseases. Frontiers in Molecular Biosciences, 3(MAR). doi:10.3389/fmolb.2016.00007
Butchbach, M. E. R., Lumpkin, C. J., Harris, A. W., Saieva, L., Edwards, J. D., Workman, E., & Burghes, A. H. M. (2016). Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy. Experimental Neurology, 279, 13-26. doi:10.1016/j.expneurol.2016.02.009
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Rossi, S. L., Lumpkin, C. J., Harris, A. W., Holbrook, J., Gentillon, C., McCahan, S. M., & Butchbach, M. E. R. (2016). Identification of early gene expression changes in primary cultured neurons treated with topoisomerase I poisons. Biochemical and Biophysical Research Communications, 479(2), 319-324. doi:10.1016/j.bbrc.2016.09.068
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Butchbach, M. E. R. (2016a). Applicability of digital PCR to the investigation of pediatric-onset genetic disorders. Biomolecular Detection and Quantification, 10, 9-14. doi:10.1016/j.bdq.2016.06.002
Harris, A. W., & Butchbach, M. E. R. (2015). The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy. Neuromuscular Disorders, 25(9), 699-705. doi:10.1016/j.nmd.2015.05.008
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Stabley, D. L., Harris, A. W., Holbrook, J., Chubbs, N. J., Lozo, K. W., Crawford, T. O., & Butchbach, M. E. R. (2015). Smn1 and smn2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital pcr. Molecular Genetics and Genomic Medicine, 3(4), 248-257. doi:10.1002/mgg3.141

Matthew E. R. Butchbach, PhD

Biography

Education & Training

Medical/Dental School

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Matthew E. R. Butchbach, PhD

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Biography

Education & Training

Medical/Dental School

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