Structural birth malformations of the brain and face can cause a wide range of issues that adversely affect child health. For example, microcephaly is a term for a significantly smaller brain and is associated with developmental delays, intellectual disabilities, feeding challenges, vision problems and hearing loss. More research into the genetic links of structural birth abnormalities is ongoing and essential.
I’m interested in researching the genetics of structural birth defects affecting the face and brain. These abnormalities include syndromic oro-facial clefting and structural brain conditions, such as microcephaly, lissencephaly and polymicrogyria.
In our lab, my team and I use a combination of animal models and human genetics to find the genes needed for normal development. We perform genome sequencing on both humans and mouse models of structural birth defects to identify new genetic variants affecting brain and face development. We then research the molecular consequences of those variants disturbing function in a developing embryo.
We are looking to answer several different questions in our research lab, including:
- What genetic variants lead to human structural birth malformations?
- Can we recapitulate these genetic variants in animal or cellular models?
- Can we use those animal and cellular models to understand the pathogenesis and design new therapeutic interventions?
Once we have answered these questions and uncovered the specific genetic variants, we want to design an intervention for people who have these variants in the future. A notable discovery from our research lab is the identification of a number of novel loci found from our human genetic studies, which include FZD2, COPB2, SMDP4 and NMNAT2.
When I first began my training, I had a relatively broad interest in neuroscience and studying how to best use the mouse as a model to investigate human disease. My graduate studies centered on mouse molecular embryology and my postdoctoral training focused on gene discovery. I developed a research program centered on gene discovery at the Cincinnati Children’s Hospital Medical Center.
When CRISPR gene-editing and human genome sequencing became more common, my team and I began including these tools in our research program to precisely investigate the genetics of affected children. Then, we attempt to utilize the tools of mouse genetics and molecular embryology to examine why those genetic variants lead to structural malformations. Our overall goal is to design customized treatments.
I was named the Basil O'Connor Scholar of the March of Dimes Foundation in 2013. I have more than 20 years’ experience in molecular genetics and started working at the Cincinnati Children’s Hospital Medical Center in 2011.
My research has been published in various journals, such as Human Molecular Genetics, Development, Developmental Biology, eLIFE, The American Journal of Human Genetics and PLoS Genetics.
Developmental neurobiology; genetics; animal models of human congenital defects
Visit the Stottmann Lab.
Associate Professor, UC Department of Pediatrics
Human Genetics, Developmental Biology