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Richard H. Finnell, Ph.D.

Professor, Department of Pediatrics, The University of Texas at Austin Dell Medical School
Director, Genomic Research, Dell Children's Medical Center
Curriculum Vitae
(512) 495-3001



Richard H. Finnell is a Professor in the Department of Pediatrics and Director of Genomic Research at Dell Children's Medical Center. He has a distinguished career researching environmentally induced birth defects. Dr. Finnell serves on the National Advisory Environmental Health Sciences Council and is the chair of the CICbioGUNE Research Institute scientific advisory board in Bilbao, Spain, where he also holds a research appointment.

Research Interests

Research in Dr. Finnell's laboratory focuses on the interaction between specific genes and nutritional factors as they influence normal embryonic development. The laboratory is primarily engaged in understanding the beneficial effects of women taking a multivitamin containing the B vitamin folic acid. We want to know how it protects developing babies from having birth defects, and why it is not effective in some pregnancies. The laboratory participates in the National Birth Defects Prevention Study as a core laboratory, serving the needs of Texas, California and Massachusetts. In additional to performing population based human molecular epidemiology studies, the Finnell Laboratory uses the latest in gene knockout technology to eliminate the function of genes to create novel mouse models of human diseases.
The goal of the work is to develop better means of identifying high-risk pregnancies and to optimize the use of nutritional factors to prevent preventable birth defects without causing unintended adverse health effects on the population at large. Enhanced capabilities for assessment of individual risk for developing spina bifida and other folate responsive birth defects would permit prevention regimens to be tailored to individuals rather than applied 'shot-gun' to populations. In broadest scope, our research efforts have implications for every reproductive-age woman worldwide. In addition, folate metabolism can exert a lasting impact on gene expression by influencing DNA methylation, making it imperative that we understand the ramifications of folic acid supplementation. Understanding the relationships between the folic acid metabolic pathway and risk genes associated with birth defects will have important relevance for a broad range of other diseases such as autism, in which folate status may play a significant role.

Selected Publications: PubMed   |   Nature Cell Biology Journal   |   Download

  • Dai D, Zhu H, Wlodarczyk B, Zhang L, Li L, Li A, Finnell RH, Roop DR and J Chen. 2010. Fuz controls the morphogenesis and differentiation of hair follicles through the formation of primary cilia. J. Invest. Derm. 2010 Oct 21. [Epub ahead of print] PMID 20962855  
  • Obican SG, Finnell RH, Mills JL, Shaw GM, Scialli AR. 2010. Folic acid in early pregnancy: a public health success story. FASEB J. Jul 14. [Epub ahead of print]. PMID: 20631328  
  • Rosenquist TH, Chaudoin T, Finnell RH, Bennett GD. 2010. High-affinity folate receptor in cardiac neural crest migration: A gene knockdown model using siRNA. Dev Dyn. 239(4):1136-1144. PMID: 20235221
  • Gray, R.S., Abitua, P.B., Wlodarczyk, B.J., Szabo-Rogers, H.L., Blanchard, O., Lee, I., Weiss, G.S., Liu, K.J., Marcotte, E.M., Wallingford, J.B., and Finnell, R.H. (2009) The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development. Nat Cell Biol. 11(10):1225-1232. Epub 2009 Sep 20.
  • Iskandar, B.J., Rizk, E., Brenton, M., Hariharan, N., Bottiglieri, T., Finnell, R.H., Jarrard, D.F., Banerjee, R.V., Skene, J.H.P, Nelson, A., Cherasim, G., Simon, K., Cook, T.D. and Hogan, K. 2010. Folate promotes CNS regeneration after injury. J. Clin. Invest. 120(5):1603-16. PMID: 20424322, PMC2860927.
  • Shaw, G.M., Finnell, R.H., Blom, H.J., Carmichael, S.L., Vollset, S.E., Yang, W., and Ueland P.M. (2009) Choline and risk of neural tube defects in a folate-fortified population. Epidemiology. 20(5):714-719.
  • Shaw, G.M., Lu, W., Zhu, H., Yang, W., Briggs, F.B., Carmichael, S.L., Barcellos, L.F., Lammer, E.J., and Finnell, R.H. (2009) 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
    BMC Med Genet. 10:49.  
  • Shi, Z., Cai, Z., Wen, S., Chen, C., Gendron, C., Sanchez, A., Patterson, K., Fu, S., Yang, J., Wildman, D., Finnell, R.H., and Zhang, D. (2009) Transcriptional regulation of the novel Toll-like receptor Tlr13. J Biol Chem. 284(31):20540-20547. Epub 2009 Jun 1.
  • Kibar, Z., Bosoi, C.M., Kooistra, M., Salem, S., Finnell, R.H., De Marco, P., Merello, E., Bassuk, A.G., Capra, V., and Gros, P. (2009) Novel mutations in VANGL1 in neural tube defects. Hum Mutat. 30(7):E706-715.
  • Jakubowski, H., Perla-Kaján, J., Finnell, R.H., Cabrera, R.M., Wang, H., Gupta, S., Kruger, W.D., Kraus, J.P., and Shih, D.M. (2009) Genetic or nutritional disorders in homocysteine or folate metabolism increase protein N-homocysteinylation in mice. FASEB J. 23(6):1721-1727. Epub 2009 Feb 9.