About the Lab
More than 100,000 babies are born each year in the United States with structural birth defects requiring special care and interventions to survive. Despite the high incidence of these defects, finding the underlying cause in the majority of cases has been elusive. This is in part due to the complex origins of these birth defects where genetic and environmental factors interact to cause malformations. The complex etiology of birth defects makes identifying the genes involved extremely difficult. Furthermore, how susceptible genetic backgrounds interact with environmental factors to cause birth defects remains poorly understood.
The Zohn Laboratory studies the embryological origins of structural birth defects such as neural tube defects (spina bifida and anencephaly) and congenital heart defects. The overall goals of our studies are to:
- Identify the genes involved in normal development of the neural tube and heart
- Determine how mutation of these genes disrupt development of these organs
- Elucidate how these mutations interact with environmental factors leading to birth defects
To translate our findings, we collaborate with human geneticists to identify disease-associated mutations in our genes of interest and determine if these mutations likely cause birth defects in patients.