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Robert B. Wilson, MD, PhD
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Professor of Pathology and Laboratory Medicine at the Hospital of the University of Pennsylvania
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Co-Director, Penn Medicine and Children's Hospital of Philadelphia Friedreich's Ataxia Center of Excellence
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Senior Scientist, Center for Mitochondrial and Epigenomic Medicine, Children's Hospital of Philadelphia
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Chief, Division of Pathology Informatics, Children's Hospital of Philadelphia
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Vice Chair, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia
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Department: Pathology and Laboratory Medicine
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Contact information
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Department of Pathology and Laboratory Medicine
2d Children’s Hospital of Philadelphia
39 Room 6024, Colket Translational Research Building
3a 3501 Civic Center Blvd.
Philadelphia, PA 19104
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2d Children’s Hospital of Philadelphia
39 Room 6024, Colket Translational Research Building
3a 3501 Civic Center Blvd.
Philadelphia, PA 19104
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Office: 267-425-2201
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Email:
WILSONR@MAIL.MED.UPENN.EDU
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WILSONR@MAIL.MED.UPENN.EDU
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Education:
21 a Sc.B. 19 (Biochemistry) c
29 Brown University, 1982.
21 9 A.B. 12 (Music) c
29 Brown University, 1982.
21 a Ph.D. 15 (Genetics) c
33 University of Pennsylvania, 1989.
21 9 M.D. c
33 University of Pennsylvania, 1989.
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Permanent link21 a Sc.B. 19 (Biochemistry) c
29 Brown University, 1982.
21 9 A.B. 12 (Music) c
29 Brown University, 1982.
21 a Ph.D. 15 (Genetics) c
33 University of Pennsylvania, 1989.
21 9 M.D. c
33 University of Pennsylvania, 1989.
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157 Rojsajjakul, T., Mesaros, C., Do, W., Wilson, R. B., Blair, I. A.: A standard from stable isotope labeling in bacteria (SILIB) allows quantification of a critical zebrafish frataxin protein undetectable by conventional methods. Analytical Chemistry Page: In Press, 2025.
153 Squillaci, G., Cotticelli, M. G., Carbone, V., Westfall, A. O., Wilson, R. B., Morana, A.: Polyphenol-Enriched Fraction from Chestnut Shells as a Source of Bioactive Compounds for Friedreich Ataxia. Molecules 31(70): 1, 2025 Notes: doi.org/10.3390/molecules31010070.
16b Mukherjee, S.,Pereboeva, L., Fil, D., Saikia, A., Lee, J., Li, J., Cotticelli, M. G., Wilson, R. B., Napierala M., Napierala, J. S.: Design and validation of cell-based potency assays for frataxin supplementation treatments. Molecular Therapy Methods & Clinical Development 32: 1, Dec 2024.
106 Lee, T., Gocal, J., Do, W., Westfall, A., Spagnoli, S. T., Lin, D., Janock, C., Ernst, S., Seiler, C., Wilson, R. B.: A Zebrafish Model of Friedreich Ataxia. Manuscript in preparation 2024.
104 Rodden, L. N., Rummey, C., Kessler, S., Wilson, R. B., Lynch, D. R.: A novel metric for predicting severity of disease features in Friedreich ataxia. Movement Disorders 38: 970-977, 2023.
194 Cotticelli, M. G., Xia, S., Truit, R., Doliba, N. M., Rozo, A. V., Tobias, J. W., Lee, T., Chen, J., Napierala, J. S., Napierala, M., Yang, W., Wilson, R. B.: Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response. Disease Models & Mechanisms 16(5): dmm049497, 2023.
1a2 Wang, D., Ho, E. S., Cotticelli, M. G., Xu, P., Napierala, J. S., Hauser, L. A., Napierala, M., Wilson, R. B., Lynch, D. R., Mesaros, C.: Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. Journal of Lipid Research 63: 100255, 2022 Notes: https://doi.org/10.1016/j.jlr.2022.100255.
1c8 Kim, C. Y., Johnson, H., Peltier, S., Spitalnik, S. L., Hod, E. A., Francis, R. O., Hudson, K. E., Stone, E. F., Gordy, D. E., Fu, X. Zimring, J. C., Amireault, P., Buehler, P. W., Wilson, R. B., D'Alessandro, A., Shchepinov, M., Thomas, T. A.: Deuterated Linoleic Acid Attenuates the RBC Storage Lesion in A Mouse Model of Poor RBC Storage. Frontiers in Physiology 13: 868578, 2022.
160 Cotticelli, M. G., Forestieri, R., Xia, S., Joyasawal, S., Lee, T., Xu, K., Smith, A., Huryn, D., Wilson, R. B.: Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia. ACS Chemical Neuroscience 11: 2535−2542, 2020.
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Selected Publications
122 Graham, B., Master, S. R., Obstfeld, A., Wilson, R. B.: A Multi-Analyte Machine Learning Model to Detect Wrong Blood in Complete Blood Count Tube Errors in a Pediatric Setting. Clinical Chemistry 71(3): 418, Mar 2025.157 Rojsajjakul, T., Mesaros, C., Do, W., Wilson, R. B., Blair, I. A.: A standard from stable isotope labeling in bacteria (SILIB) allows quantification of a critical zebrafish frataxin protein undetectable by conventional methods. Analytical Chemistry Page: In Press, 2025.
153 Squillaci, G., Cotticelli, M. G., Carbone, V., Westfall, A. O., Wilson, R. B., Morana, A.: Polyphenol-Enriched Fraction from Chestnut Shells as a Source of Bioactive Compounds for Friedreich Ataxia. Molecules 31(70): 1, 2025 Notes: doi.org/10.3390/molecules31010070.
16b Mukherjee, S.,Pereboeva, L., Fil, D., Saikia, A., Lee, J., Li, J., Cotticelli, M. G., Wilson, R. B., Napierala M., Napierala, J. S.: Design and validation of cell-based potency assays for frataxin supplementation treatments. Molecular Therapy Methods & Clinical Development 32: 1, Dec 2024.
106 Lee, T., Gocal, J., Do, W., Westfall, A., Spagnoli, S. T., Lin, D., Janock, C., Ernst, S., Seiler, C., Wilson, R. B.: A Zebrafish Model of Friedreich Ataxia. Manuscript in preparation 2024.
104 Rodden, L. N., Rummey, C., Kessler, S., Wilson, R. B., Lynch, D. R.: A novel metric for predicting severity of disease features in Friedreich ataxia. Movement Disorders 38: 970-977, 2023.
194 Cotticelli, M. G., Xia, S., Truit, R., Doliba, N. M., Rozo, A. V., Tobias, J. W., Lee, T., Chen, J., Napierala, J. S., Napierala, M., Yang, W., Wilson, R. B.: Acute frataxin knockdown in induced pluripotent stem cell-derived cardiomyocytes activates a type I interferon response. Disease Models & Mechanisms 16(5): dmm049497, 2023.
1a2 Wang, D., Ho, E. S., Cotticelli, M. G., Xu, P., Napierala, J. S., Hauser, L. A., Napierala, M., Wilson, R. B., Lynch, D. R., Mesaros, C.: Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia. Journal of Lipid Research 63: 100255, 2022 Notes: https://doi.org/10.1016/j.jlr.2022.100255.
1c8 Kim, C. Y., Johnson, H., Peltier, S., Spitalnik, S. L., Hod, E. A., Francis, R. O., Hudson, K. E., Stone, E. F., Gordy, D. E., Fu, X. Zimring, J. C., Amireault, P., Buehler, P. W., Wilson, R. B., D'Alessandro, A., Shchepinov, M., Thomas, T. A.: Deuterated Linoleic Acid Attenuates the RBC Storage Lesion in A Mouse Model of Poor RBC Storage. Frontiers in Physiology 13: 868578, 2022.
160 Cotticelli, M. G., Forestieri, R., Xia, S., Joyasawal, S., Lee, T., Xu, K., Smith, A., Huryn, D., Wilson, R. B.: Identification of a Novel Oleic Acid Analog with Protective Effects in Multiple Cellular Models of Friedreich Ataxia. ACS Chemical Neuroscience 11: 2535−2542, 2020.
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