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. My group has been continuously funded by NIH NIDCR grants since 2000, this has allowed us to recruit more than 1,500 families with these birth defects and to establish the International Craniosynostosis Consortium. Genome-wide association studies (GWAS) have been instrumental in elucidating the etiology of numerous multifactorial disorders.  Our strategy is to use case-parent trios with birth defects for SNP based association studies on groups and more recently, we have been employing whole-exome and whole-genome sequencing strategies.  It is important to emphasize that these approaches can be successfully used for genetic analysis of any complex trait, i.e. autism, diabetes, and hypertension. We are happy to collaborate and provide genetic expertise to clinicians and researchers interested in multifactorial human disorders. Interested individuals and families are welcome to register through our study website in order to support and participate in our studies. 

“Whole genome sequencing of craniosynostosis”