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Alexander G. Bassuk, MD, PhD

Professor of Pediatrics - Neurology

Introduction

I am a pediatric neurologist and my laboratory focuses on the neuroanatomy, molecular biology, protein biochemistry, and genetic mechanisms in human diseases and animal models. I have trained multiple medical students, resident and fellow researchers, and graduated three PhD students. I have been the recruiter for The University of Iowa's Child Health Research Career Development Award since 2011 and I am currently the Director of the University of Iowa CTSA-KL2 program. I am involved with under-represented minority (URM) recruiting at all levels at the University of Iowa.

Current Positions

  • Chair, Stead Family Department of Pediatrics
  • Physician-in-Chief, Stead Family Children's Hospital
  • Professor of Pediatrics - Neurology
  • Professor of Neurology

Education

  • AB in Fundamentals: Issues and Texts, University of Chicago, Chicago, Illinois
  • PhD in Biological Sciences Pathology, University of Chicago, Chicago, Illinois
  • MD, University of Chicago Pritzker School of Medicine, Chicago, Illinois
  • Resident in Pediatrics, Children's Memorial Hospital, Northwestern University
  • Resident in Pediatric Neurology, Children's Memorial Hospital, Northwestern University

Graduate Program Affiliations

Center, Program and Institute Affiliations

Research Interests

  • Genetics and mechanisms underlying human epilepsy
  • Molecular mechanisms of retinal disease
  • Molecular mechanisms of traumatic brain injury
  • Molecular mechanism of bone inflammation
  • Copy number variation in human health and disease
  • The genetics of neural tube defects

Licenses & Certifications

  • Board Certified, General Pediatrics
  • Board Certified, Neurology with Special Qualification in Child Neurology
  • Iowa Permanent Medical License
  • Illinois Medical License

Selected Publications

  • Kambouris, M., Thevenon, J., Soldatos, A., Cox, A., Stephen, J., Ben-Omran, T., Al-Sarraj, Y., Boulos, H., Bone, W., Mullikin, J. C., Masurel-Paulet, A., St-Onge, J., Dufford, Y., Chantegret, C., Thauvin-Robinet, C., Al-Alami, J., Faivre, L., Riviere, J. B., Gahl, W. A., Bassuk, A. G., Malicdan, M. C. & El-Shanti, H. (2016). Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Annals of clinical and translational neurology 4 (1) 26-35. DOI: 10.1002/acn3.372. PMID: 28078312. PMCID: PMC5221474.
  • Gakhar, L., Bassuk, A. G., Velez, G., Khan, S., Yang, J., Tsang, S. H. & Mahajan, V. B. (2016). Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains. Journal of structural biology 196 (3) 309-318. DOI: 10.1016/j.jsb.2016.07.017. PMID: 27474374. PMCID: PMC5118095.
  • Wang, Y., Williams, J., Rattner, A., Wu, S., Bassuk, A. G., Goffinet, A. M. & Nathans, J. (2016). Patterning of papillae on the mouse tongue: A system for the quantitative assessment of planar cell polarity signaling. Developmental biology 419 (2) 298-310. DOI: 10.1016/j.ydbio.2016.09.004. PMID: 27612405.
  • Yang, J., Bassuk, A. G., Merl-Pham, J., Hsu, C. W., Colgan, D. F., Li, X., Au, K. S., Zhang, L., Smemo, S., Justus, S., Nagahama, Y., Grossbach, A. J., Howard, 3rd, M. A., Kawasaki, H., Feldstein, N. A., Dobyns, W. B., Northrup, H., Hauck, S. M., Ueffing, M., Mahajan, V. B. & Tsang, S. H. (2016). Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors. Human molecular genetics 25 (19) 4201-4210. DOI: 10.1093/hmg/ddw253. PMID: 27516388. PMCID: PMC5291196.
  • Zhang, L., Justus, S., Xu, Y., Pluchenik, T., Hsu, C. W., Yang, J., Duong, J. K., Lin, C. S., Jia, Y., Bassuk, A. G., Mahajan, V. B. & Tsang, S. H. (2016). Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa. Human molecular genetics 25 (19) 4244-4255. DOI: 10.1093/hmg/ddw256. PMID: 27516389. PMCID: PMC5291198.
  • Ehaideb, S. N., Wignall, E. A., Kasuya, J., Evans, W. H., Iyengar, A., Koerselman, H. L., Lilienthal, A. J., Bassuk, A. G., Kitamoto, T. & Manak, J. R. (2016). Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans. Annals of clinical and translational neurology 3 (9) 695-707. DOI: 10.1002/acn3.334. PMID: 27648459. PMCID: PMC5018582.
  • Wu, W., Tsai, Y., Justus, S., Lee, T., Zhang, L., Lin, C., Bassuk, A. G., Mahajan, V. B. & Tsang, S. H. (2016). CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa. Molecular Therapy: The Journal of the American Society of Gene Therapy. DOI: 10.1038/mt.2016.107. PMID: 27203441.
  • Schaefer, K. A., Toral, M. A., Velez, G., Cox, A. J., Baker, S. A., Borcherding, N. C., Colgan, D. F., Bondada, V., Mashburn, C. B., Yu, C., Geddes, J. W., Tsang, S. H., Bassuk, A. G. & Mahajan, V. B. (2016). Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses. Investigative Ophthalmology & Visual Science 57 (6) 2509–2521. DOI: 10.1167/iovs.15-18680. PMID: 27152965.
  • Moshfegh, Y., Velez, G., Li, Y., Bassuk, A. G., Mahajan, V. B. & Tsang, S. H. (2016). BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE. Human Molecular Genetics. DOI: 10.1093/hmg/ddw126. PMID: 27193166.
  • Mahajan, V. B. & Bassuk, A. G. (2016). Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. American Journal of Human Genetics 98 (3) 590–591. DOI: 10.1016/j.ajhg.2016.02.002. PMID: 26942292.