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The long-term goals of our lab are to understand the genes and molecular mechanisms guiding development of the brain and face. We use animal models to identify genes required for normal development and then study the molecular consequences of disrupting their function in the developing embryo. We have also begun to take advantage of revolutionary genomics techniques to directly identify the genetic basis of human syndromes.
The mammalian forebrain contains millions of neurons making billions of connections. The cerebral cortex is the site of many higher-order functions in humans. During development of the cerebral cortex, neurons are born at the ventricular surface and migrate into the cortical plate where they differentiate, extend processes and make mature circuits within the brain and throughout the nervous system. The genetic regulation of cortical neuronal identity and migration is a major focus of the laboratory.
While structural brain defects affect a significant number of newborns each year (~15/10,000), more subtle defects in neuronal specification and migration also have drastic consequences. These include the intellectual disability disorders, autism, epilepsy and other neuropsychiatric disorders which can lead to lifelong suffering and disability. We hope to contribute to a greater understanding of the development of these brain malformations to inform a possible cure.
Craniofacial malformations are a very common congenital defect. As the developing brain and face interact with each other during development and are often controlled by similar molecular pathways, we have a parallel interest in understanding the genetic basis of craniofacial development using both mouse models and human genetics.
Our laboratory is located within the Research Foundation Building (R) of the Cincinnati Children's Hospital Medical Center. Dr. Stottmann is a faculty member of the Divisions of Human Genetics and Developmental Biology (joint appointment) as well as a mentor in the Molecular and Developmental Biology Graduate Program (MDB) and the Neuroscience Program at the University of Cincinnati College of Medicine. He also is an affiliate member of the UC Department of Molecular Genetics, Biochemistry and Microbiology.
Ha S, Stottmann RW, Furley AJ, Beier DR. A Forward Genetic Screen in Mice Identifies Mutants with Abnormal Cortical Patterning. Cereb Cortex. 2013 Aug 22.
Stottmann RW, Donlin M, Hafner A, Bernard A, Sinclair DA, Beier DR. A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse. Hum Mol Genet. Jun 19. 2013.
Tran PV, Lachke SA, Stottmann RW. Toward a systems-level understanding of the Hedgehog signaling pathway: defining the complex, robust, and fragile. Wiley Interdiscip Rev Syst Biol Med. Jan;5(1):83-100. doi: 10.1002/wsbm.1193. 2013.
Stottmann, R.W. Turbe-Doan, A., Tran, P., Kratz, L., Moran, J., Kelley, R., Beier, D.R. Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo. PLoS Genetics, 7(9): e1002224. 2011.
Stottmann, R.W., Moran, J., Turbe-Doan, A., Driver, E., Kelly, M., Beier, D.R. Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. Genetics. 188; 615-624. 2011.
Stottmann, R.W. and Klingensmith, J. Bone Morphogenetic Protein signaling is required in the dorsal neural folds before neurulation for the induction of spinal neural crest cells and dorsal neurons. Developmental Dynamics. 240: 755-65. 2011.
Stottmann, R.W. and Beier, D.R. Using ENU mutagenesis for phenotype-driven analysis of the mouse. Methods in Enzymology. 477: 329-48. 2010.
Stottmann, R.W., Bjork, B.C., Doyle, J.B., Beier, D.R. Identification of a van der Woude Syndrome mutation in the cleft palate 1 mouse. Genesis. 48: 303-8. 2010.
Jaeger, S.A., Chan, E.T., Berger, M.F., Stottmann, R.W., Hughes, T.R., Bulyk, M.L. Conservation and regulatory associations of a wide affinity range of mouse transcription factor binding sites. Genomics. 95: 185-95. 2010.
Tran, P.T., Haycraft, C.J., Besschetnova, T.Y., Turbe-Doan., A., Stottmann, R.W., Herron, BJ, Chesebro, AL, Qiu, H.., Scherz, PJ, Shah, J.G., Yoder, B.K., Beier, D.R. THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde inraflagellar transport n cilia.Nature Genetics. 40: 403-410. 2008.
Stottmann, R.W., Choi, M., Mishina, Y., Klingensmith, J. BMP Receptor IA is required in mammalian neural crest cells for development of the cardiac outflow tract and ventricular myocardium.Development. 131: 2205-18. 2004.
Rolf Stottmann, PhD
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The mouse brain at birth.
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