Birth defects are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths, yet the causes of about 70% of all birth defects are still unknown.
My laboratory is involved in studies of non-Mendelian (multifactorial) birth defects, such as nonsyndromic craniosynostosis, bladder epispadias-exstrophy complex, and cleft lip and/or palate. Our ultimate goal is to identify genes and environmental factors contributing to the risk of these birth defects. Our initial approach involves recruitment and systematic evaluation of a large groups of affected families. This allows for unbiased ascertainment of the clinical and epidemiologic characteristics of these defects and their phenotypic variability.
We are happy to collaborate and provide genetic expertise to clinicians and researchers interested in multifactorial human disorders.
We also invite interested individuals and families to learn more about our lab focus on the genetic and environmental factors contributing to the risk of birth defects and consider registering to support and participate in our research studies.