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Benjamin Darbro, MD, PhD

Professor

Introduction

My primary research interest is in the genetic determinants of neurodevelopmental disorders, molecular mechanisms of cancer, and how the two seemingly unrelated conditions overlap at a genetic-network level. I study the roles of both germline and somatic sequence level and structural variations in the context of a “genomic mutational burden” hypothesis of both cancer and neurodevelopmental disorders. This hypothesis is investigated using a combination of conventional cytogenetics methods (chromosome analysis and fluorescence in situ hybridization) and new molecular, high throughput, and high data volume, genomic technologies including single nucleotide polymorphism (SNP) arrays, gene expression microarrays, comparative genomic hybridization (CGH) arrays as well as custom targeted, whole exome, and whole genome massively parallel DNA sequencing. We perform our own bioinformatics and are actively engaged in the development of new analysis tools to better meet our needs and those of the scientific community.

Current Positions

  • Professor, Stead Family Department of Pediatrics, Division of Medical Genetics & Genomics
  • Director, Shivanand R. Patil Cytogenetics and Molecular Laboratory
  • Associate Director, Iowa Institute of Human Genetics

Education

  • BS in Biochemistry & Molecular Biology, Nebraska Wesleyan University, Lincoln, Nebraska
  • PhD in Molecular and Cellular Biology, University of Iowa, Iowa City, Iowa
  • MD in Medicine, University of Iowa, Iowa City, Iowa
  • Resident in Clinical Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa
  • Fellow in Molecular Genetic Pathology, University of Iowa Hospitals and Clinics, Iowa City, Iowa

Graduate Program Affiliations

Research Interests

  • 09/2003: Medical Student Research Day, University of Iowa (Oral Presentation), The Mechanism of p16INK4a Induced Telomere-Independent Senescence in Human Keratinocytes
  • 04/2003: Carver College of Medicine Research Week, University of Iowa (Poster Session), The Mechanism of Telomere-Independent Cellular Senescence in Human Keratinocytes
  • 04/2011: Carver College of Medicine Research Week, University of Iowa (Poster Session), Array-Based Comparative Genomic Hybridization Applied to Hematopoietic Malignancies and Myelodysplastic Syndrome
  • 04/1998: Entering the 21st Century, University of Nebraska, Lincoln, NE (Poster Session), Synthesis of Amino Acid Peroxy Amides as Potential Inhibitors of the Cysteine Protease Papain
  • 04/2004: Student Interdisciplinary Health Research Poster Session, University of Iowa (Poster Session), The Keratinocyte Wound Healing Response and Mechanism of p16INK4a Induced Telomere-Independent Senescence, Darbro, B.W., Klingelhutz, A.J. Carver College of Medicine Research Week, University of Iowa (Poster Session), The Keratinocyte Wound Healing Response and Mechanism of p16INK4a Induced Telomere-Independent Senescence
  • 04/2012: Pediatrics Research Day, University of Iowa (Oral Presentation), Discovery of Human Disease Genes by Investigation of Copy Number Variation
  • 04/1999: Nebraska Academy of Science, Lincoln, NE (Oral Presentation), The Effect of Strontium Concentration and Time of Exposure on In Vitro Porcine Oocyte Activation
  • 07/2002: National MD/PhD Conference, Aspen, CO (Poster Session), Analysis of Gene Expression Patterns Associated with Cellular Senescence and p16INK4a Expression
  • 10/2009: Pathology Research Day, Iowa City, IA (Oral Presentation), Array-Based Comparative Genomic Hybridization for Identification of Copy Number Variations in Non-Duchenne/Becker Muscular Dystrophies
  • 03/2004: AACR 95th Annual Meeting, Orlando, FL (Oral Presentation), Telomere- Independent Senescence is Associated with Activation of a Re-epithelialization Response in Human Keratinocytes

Licenses & Certifications

  • Iowa Permanent Physician License
  • Clinical Pathology Board Exam
  • Molecular Genetic Pathology Board Exam
  • USMLE Step 3
  • USMLE Step 2 CS
  • USMLE Step 2 CK
  • USMLE Step 1

Selected Publications

  • Paemka, L., Mahajan, V. B., Ehaideb, S. N., Skeie, J. M., Tan, M. C., Wu, S., Cox, A. J., Sowers, L. P., Gecz, J., Jolly, L., Ferguson, P. J., Darbro, B., Schneider, A., Scheffer, I. E., Carvill, G. L., Mefford, H. C., El-Shanti, H., Woods, S. A., Manak, J. R. & Bassuk, A. G. (null). Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase. PLoS Genetics 11 (3) e1005022. PMID: 25763846.
  • McMahon, K., Paciorkowski, A. R., Walters-Sen, L. C., Milunsky, J. M., Bassuk, A., Darbro, B. W., Diaz, J., Dobyns, W. B. & Gropman, A. (2017). Neurogenetics in the Genome Era. In Swaiman’s Pediatric Neurology 6th Edition Principles and Practice. pp. 623-643. Elsevier.
  • Cox, A. J., Darbro, B. W., Laxer, R. M., Velez, G., Bing, X., Finer, A. L., Erives, A., Mahajan, V. B., Bassuk, A. G. & Ferguson, P. J. Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO). (Vols. 12). (3) PLoS One. PMID: 28301468.
  • Panzer, K., Ekhaguere, O. A., Darbro, B. W., Cook, J. & Shchelochkov, O. A. Uniparental Isodisomy of Chromosome 1 Unmasking an Autosomal Recessive 3-Beta Hydroxysteroid Dehydrogenase Type II-Related Congenital Adrenal Hyperplasia. Journal of Clinical Research and Pediatric Endocrinology 9 (1) 70-3. PMID: 27796263.
  • Lutter, M., Khan, M. Z., Satio, K., Davis, K. C., Kidder, I. J., McDaniel, L., Darbro, B. W., Pieper, A. A. & Cui, H. The Eating-Disorder Associated HDAC4A778T Mutation Alters Feeding Behaviors in Female Mice. Biological Psychiatry. PMID: 27884425.
  • Hildebrand, M. S., Griffin, N. G., Damiano, J. A., Cops, E. J., Burgess, Ozturk, E., Jones, N. C., Leventer, R. J., Freeman, J. L., Harvey, A. S., Sadleir, L. G., Scheffer, I. E., Major, H., Darbro, B. W., Allen, A. S., Goldstein, D. B., Kerrigan, J. F., Berkovic, S. F. & Heinzen, E. L. Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. (Vols. 99). (2), pp. 423-9. American Journal of Human Genetics. PMID: 27453577. PMCID: PMC4974069.
  • Darbro, B. W., Singh, R., Zimmerman, M. B., Mahajan, V. B. & Bussuk, A. G. Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate. Plos One 11 (3) e0149041. PMID: 26934580. PMCID: PMC4774916.
  • Steussy, B., Lekostaj, J., Qian, Q., Rosenthal, N., Holman, C. J., Syrbu, S., Darbro, B. W., Bossler, A. & Karandikar, N. J. Leukemic Transdifferentiation of Follicular Lymphoma into an Acute Histiocytic Leukemia in a 52-Year-Old Caucasian Woman. Laboratory Medicine 47 (2) 155-7. PMID: 27069033.
  • Thomas, C. P., Mansilla, M. A., Sompallae, R., Mason, S. O., Nishimura, C. J., Kimble, M. J., Campbell, C. A., Kwitek, A. E., Darbro, B. W., Stewart, Z. A. & Smith, R. J. Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy. American Journal of Transplantation: Official journal of the American Society of Transplantation and the American Society of Transplant Surgeons. PMID: 27434427.