Shelley D. Smith, PhD, FACMG

Shelley SmithShelley D. Smith, PhD, FACMG
Developmental Neuroscience Department
Munroe-Meyer Institute
985960 Nebraska Medical Center
Omaha, NE 68198-5960

Phone: (402) 559-5314

Professional Summary:

Shelley D. Smith, Ph.D., is Professor of Pediatrics in the College of Medicine and Professor and Director of Developmental Neuroscience at the Munroe Meyer Institute for Genetics and Rehabilitation. She is also the Director of the MD/PhD Scholars program for the UNMC College of Medicine. She obtained her Ph.D. in Medical Genetics from Indiana University and is board certified as a Ph.D. Medical Geneticist by the American College of Medical Genetics. She completed a fellowship in pediatric genetics with Dr. Herbert Lubs at the University of Colorado Health Sciences Center and the University of Miami Mailman Center and subsequently held faculty positions at the University of Miami and at Boys Town National Research Hospital (BTNRH) before coming to UNMC in 1999. Her research has been in the localization and identification of genes affecting hereditary deafness and developmental language and learning disorders, particularly reading disability, language impairment, speech sound disorder, and ADHD. She is Principal Investigator for the Nebraska Center for the Molecular Biology of Neurosensory Systems, an NIH-P20 Center of Biomedical Research Excellence (COBRE), and is also active in the multidisciplinary Neurosensory Genetics clinic staffed by clinicians from UNMC and BTNRH.


PhD, Medical Genetics, Indiana University, Indianapolis
BA, Biology, Grinnell College, Grinnell, Iowa

Courses Taught:

Lectures in:
PEDS 911, Human Genetics and Cytogenetics Principles
GCBA 900, Advanced Concepts in Molecular Genetics

Research Interests and Projects:

  • Neurosensory Disorders: Hearing Loss and Vision
    Nebraska Center for the Molecular Biology of Neurosensory Systems (S.D. Smith, PI)
    NIH:NCRR 2P20 RR18788
    This Center of Biomedical Research Excellence (COBRE) is in its second 5-year period of funding and supports the development of research into the molecular mechanisms of hearing, vision, and balance disorders. The goals of this Center are to define the genetic and molecular pathways that are involved in the development and maintenance of the auditory and visual systems so that effective means of prevention or reversal of disabilities can be discovered. This is a multi-institutional program including researchers from UNMC, Creighton University, and Boys Town National Research Hospital. This research is facilitated by building an interactive group of senior researchers, supporting the research of new faculty, and by enhancing the research infrastructure. The Center contributes to three scientific core facilities at UNMC, Mouse Genome Engineering, Histology and Molecular Phenotyping, and Gene Expression and Sequencing and provides funding for research projects and mentoring to support the career development of junior faculty members.
  • Reading Disability and ADHD
    Differential Diagnosis in Learning Disabilities (R.K Olson, PI): Project IV: Genomic Analysis (S.D. Smith, PI)
    NIH-NICHD 5P50HD027802
    NIH-NICHD 3P50 HD027802-19S1
    The Colorado Learning Disabilities Research Center is one of 4 Learning Disabilities Centers funded by the Eunice Kennedy Shriver National Institute for Child Health and Development of the National Institutes of Health. The Center is based at the Institute for Behavior Genetics at the University of Colorado, and includes researchers at the University of Colorado, University of Denver, and UNMC. The Center studies the genetic and environmental influences on reading disability (dyslexia) and ADHD. Identification of the genes and their cognitive phentoypes can lead us to the genetic pathways that affect the developmental processes used by the central nervous system to learn to read and to direct attention. By understanding the underlying causes of these disorders, diagnostic characteristics and therapies can be refined. Dr. Smith’s project within the Center is focused on the DNA studies to identify the genes that contribute to these disorders, and provides molecular genetic information to the rest of the Center. We currently have over 1500 DNA samples from fraternal twins and their families, and these studies have identified the major loci contributing to reading disability on chromosome 6p. We are continuing to study these and additional genes to determine the genetic effects on their regulation and the phenotypic effects of their interactions.
  • Specific Language Impairment
    Morphosyntactic Abilities of SLI Probands and Families. (M.L. Rice, PI, S.D. Smith, Co-investigator)
    NIH:NIDCD R01 NIH0064386
    NIH:NIDCD R01 DC001803-14S1
    Specific Language Impairment (SLI) is a common childhood developmental disorder that affects a child’s ability to understand and use language. Molecular genetic studies have localized several candidate genes influencing language impairment, but until recently the genetic influences on language were thought to be separate from those influencing reading. In collaboration with Dr. Mabel Rice at the University of Kansas, we have been studying the effects of genes that influence one or both disorders to determine the cognitive processes that distinguish them. Since this is a longitudinal study, we will be able to determine the influence of these genes on the development of language as the children get older.
  • Twins and Singletons with Specific Language Impairment. (M.L. Rice, PI. S.D. Smith, co-investigator)
    NIH-NIDCD R01 DC005226
    In this second collaboration with Dr. Rice, we are working with Curtin University in Perth, Australia in a longitudinal study of twins ascertained before birth. This will give us the opportunity to follow very early characteristics of language development and see the language and reading outcomes. The molecular genetic component of this study will study these developing phenotypes to determine how genetic interactions contribute to language abilities at different points in time. Thorough characterization of a gene’s effects over time can help define the “endophenotype”, that is, the underlying cognitive process affected by the gene, and thus bring us closer to the neurodevelopmental factors that are critical for language development.

Selected Publications: (within the last 5 years)

  • Smith, S.D., Grigorenko, E.L., Willcutt, E., Pennington, B.F., Olson, R.K., DeFries, J.C. (2010) Etiologies and molecular mechanisms of communication disorders. J Devel Behav Psychol, 31(7):555-63. PMID: 20814255
  • Willcutt, E.G., Pennington, B.F., Duncan, L., Smith, S.D., Keenan, J.M., Wadsworth, S., Defries, J.C., Olson, R.K. (2010) Understanding the complex etiologies of developmental disorders: behavioral and molecular genetic approaches. J Dev Behav Pediatr. 31(7):533-44. PMID: 20814254
  • Scerri, T.S., Paracchini, S., Morris, A., MacPhie, I.L., Talcott, J., Stein, J., Smith, S.D., Pennington, B.F., Olson, R.K., DeFries, J.C., Monaco, A.P. (2010) Identification of candidate genes for dyslexia susceptibility on chromosome 18. PLoS One 5(10):e13712. PMID: 21060895
  • Smith, S.D. (2010) Learning Disabilities. In Nurnberger, J. and Berrettini, W. (Eds), Psychiatric Genetics, Cambridge University Press.
  • Smith, S.D. (2010) Human Genetic Contributions to the Neurobiology of Dyslexia. In McCardle, M., Ren, J., Tzeng, O. (Eds) Dyslexia Across Languages: Orthography and the Brain-Gene-Behavior Link. Baltimore, MD, Brookes Publishing Co.
  • Pennington, B.F., McGrath. L.M., Rosenberg, J., Barnard, H., Smith, S.D., Willcutt, E.G., Friend, A., DeFries, J.C., Olson, R.K. (2009) Gene x Environment interactions in Reading Disability and Attention Deficit Hyperactivity Disorder. Developmental Psychology, 45(1):77-89. PMID: 19209992
  • Rice, M., Smith, S.D. , Gayán, J. (2009) Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment. Journal of Neurodevelopmental Disorders, 1(4):264-282. PMID: 1999752.

Professional Affiliations:

  • American College of Medical Genetics
  • American Society of Human Genetics
  • Association for Research in Otolaryngology
  • Behavior Genetics Association
  • Research Education Committee, International Dyslexia Association


UNMC Distinguished Scientist Award, 2006