Education & Training:
University of Texas, Austin 1990 B.A. in Biochemistry
University of Texas Medical School, Houston 1998 M.D. & Ph.D.
University of Pennsylvania, 2002 Residency in Medicine and Neurology
University of Pennsylvania, 2007 Postdoctoral Fellow

Research Interest:
The Kolb Lab is devoted to the understanding of molecular pathways that, when altered, result in diseases of the motor neuron. We are particularly interested in alterations in RNA metabolism that result in neurological diseases. The mechanisms of spinal muscular atrophy and of distal hereditary neuropathies are current foci for biochemical and cell-based investigation. Our long-term goals are to determine the precise mechanisms that cause motor neuron diseases, including sporadic amyotrophic lateral sclerosis, and to develop small molecule and/or gene-based therapies for these diseases.

Selected Publications:

• Iyer, C., Wang, X., Renusch, S.R., Duque, S.I., Wehr, A., Mo, X-M., McGovern, V., Arnold, W.D., Burghes, A.H.M. and Kolb, S.J. (2017) Intrathecal delivery of scAAV9-SMN does not significantly alter blood SMN levels in a porcine model of spinal muscular atrophy. J. Neuromuscular Diseases. 4, 59-66. PMID: 28269795

• Heilman, P., Song, S., Miranda, C., Meyer, K., Srivastava, A. K., Knapp, A., Wier, C.G., Kaspar, B.K. and Kolb, S.J. (2017) HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons. Exp. Neuro. 297, 101-109. PMID: 28797631

• Kolb, S.J., Coffey, C.S., Yankey, J.W., Krosschell, K.P., Arnold, W.D., Rutkove, S.B., Swoboda, K.J., Reyna, S.P., Sakonju, A., Darras, B.T., Shell, R., Kuntz, N., Castro, D., Parsons, J., Connolly, A., Chiriboga, C.A., McDonald, C., Burnette, B., Werner, W., Thangarajh, M., Shieh, P., Finanger, E., Cudkowicz, M., McGovern, M.M., McNeil, D.E., Finkel, R., Iannaccone, S.T., Kaye, E., Kingsley, A., Renusch, S.R., McGovern, V.L., Wang, X., Zaworski, P.G., Prior, T.W., Burghes, A.H.M., Bartlett, A, Kissel, J.T., the NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. (2017) Natural History of Infantile-Onset Spinal Muscular Atrophy. Ann. Neurol. 82, 883- 891 PMID: 29149772

• Iyer, C., Wang, X., Renusch, S.R., Duque, S.I., Wehr, A., Mo, X-M., McGovern, V., Arnold, W.D., Burghes, A.H.M. and Kolb, S.J. (2017) Intrathecal delivery of scAAV9-SMN does not significantly alter blood SMN levels in a porcine model of spinal muscular atrophy. J. Neuromuscular Diseases. 4, 59-66.

• Kolb, S.J., Coffey, C.S., Yankey, J.W., Krosschell, K.P., Arnold, W.D., Rutkove, S.B., Swoboda, K.J., Reyna, S.P., Sakonju, A., Darras, B.T., Shell, R., Kuntz, N., Castro, D., Iannaccone, S.T., Parsons, J., Connolly, A., Chiriboga, C.A., McDonald, C., Burnette, B., Werner, W., Thangarajh, M., Shieh, P., Finanger, E., Cudkowicz, M., McGovern, M.M., McNeil, D.E., Finkel, R., Kaye, E., Kingsley, A., Renusch, S.R., McGovern, V.L., Wang, X., Zaworski, P.G., Prior, T.W., Burghes, A.H.M., Bartlett, A, Kissel, J.T., the NeuroNEXT Clinical Trial Network and on behalf of the NN101 SMA Biomarker Investigators. (2016) Baseline Results of the NeuroNEXT Spinal Muscular Atrophy Infant Biomarker Study. Ann. Clin. Transl. Neurol. 3, 132-145. PMID: 26900585

• Arnold, W.D., McGovern, V., Sanchez, B., Li, J., Corlett, K.M., Kolb, S.J., Rutkove, S. and Burghes, A.H.M. (2016) The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy. Neurobiology of Disease. 87, 116-123.

• Iyadurai, S., Arnold, W.D., Kissel, J.T., Ruhno, C., McGovern, V.L., Snyder, P.J., Prior, T.W., Roggenbuck, J., Burghes, A.H. and Kolb, S.J. (2016) Variable phenotypic expression and onset in MYH14 distal HMN phenotype in a large, multigenerational North American family Muscle Nerve doi: 10.1002/mus.25491

• Renusch, S.R., Harshman, S., Hongyang, P., Workman, E., Wehr, A., Li, X., Swoboda, K., Simard, L., Kissel, J.T., Battle, D.J., Parthun, M., Freitas, M. and Kolb, S.J. (2015) Spinal Muscular Atrophy biomarker measurements from blood samples in a clinical trial of valproic acid in ambulatory adults. J. Neuromuscular Diseases 2, 119-130.

• Duque, S.I., Arnold, W.D., Odermatt, P., Li, X., Porensky, P.N., Schmelzer, L., Meyer, K, Kolb, S.J., Schumperli, D., Kaspar, B.K. and Burghes, A.H.M. (2015) A large animal model of Spinal Muscular Atrophy and correction of phenotype. Ann. Neurol. 77, 399-414.

• Arnold, D.W., Sheth, K., Kissel, J.T., Burghes, A.H.M. and Kolb, S.J. (2015) Electrophysiological motor unit number estimation (MUNE) measuring compound muscle action potential (CMAP) in mouse hindlimb muscles. J. Vis. Exp. 103, e52899, doi: 10.3791/52899

• Arnold, W.D., Porensky, P.N., McGovern, V.L., Iyer, C.C., Duque, S., Meyer, K., Schmelzer, L., Kaspar, B.K., Kolb, S.J., Kissel, J.T. and Burghes, A.H.M. (2014) Electrophysiological Biomarkers in Spinal Muscular Atrophy: Preclinical Proof of Concept. Ann. Clin. Transl. Neurol. 1, 34-44.

• Meyer, K., Ferraiuolo, L., Miranda, C., Likhite, S., McElroy, S., Renusch, S., Ditsworth, D., Lagier- Tourenne, C., Smith, R.A., Ravits, J., Burghes, A., Shaw, P.J., Cleveland, D.W., Kolb, S.J. and Kaspar, B.K. (2014) Direct conversion of patient fibroblasts demonstrates non-cell autonomous toxicity of astrocytes to motor neurons in familial and sporadic ALS. Proc. Nat. Acad. Sci., 111, 829-832.

• Srivastava, A.K., Renusch, S.R., Naiman, N.E., Gu, S., Sneh, A., Arnold, W.D., Sahenk, Z. and Kolb, S.J. (2012) Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in mice. Neurobiol. Dis. 47, 163-173

My Google Scholar link: http://scholar.google.com/citations?user=2mOepaoAAAAJ&hl=en