The long-term goals of our lab are to understand the genes and molecular mechanisms guiding both normal development and causing congenital malformations of the brain and face. We have begun to take advantage of revolutionary genomics techniques to directly identify the genetic basis of human congenital birth defect syndromes. We also use animal models to identify genes required for normal development and then study the molecular consequences of disrupting their function in the developing embryo.
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.