andrew-lidraluiowaedu

The focus of my research is craniofacial developmental genetics. Specifically, our goal is to identify the genetic causes of craniofacial birth defects, including syndromic and nonsyndromic forms of orofacial clefting which occur in 1/500-1/1000 births. Here in the U.S. most patients are treated in a clinical team setting to coordinate treatment based upon each individual's needs. Rehabilitative care, which extends from birth until at least age 18, includes multiple surgeries, procedures and other interventions. More importantly, the social and psychological ramifications from appearing abnormal can have a very adverse effect on the person and their family. Since nonsyndromic clefting is a genetically complex trait, we use a variety of strategies to identify disease genes. Our main focus is to collaborate with other researchers to study nonsyndromic clefting in unique populations whose ethnicity or genetic heritage increase the likelyhood for gene identification. Ongoing collaborations include researchers in Colombia, South America; Pittsburgh, PA and Seattle, WA. Recently we have completed a genome wide scan and have identified a major gene on chromosome 9. We are implementing parallel and complementary strategies to identify the disease gene at this locus. These approaches include linkage and association fine-mapping approaches, sequencing candidate genes and comparative developmental genetics using available mouse models. These mouse models include two strains with cleft lip that we are studying to determine which molecular pathways are affected. Interestingly, these mouse models map to regions that have been positive in our human studies. This is quite exciting because previous studies have shown that providing supplemental folate to these mice reduces the prevalence of clefting. Therefore, the animal studies may translate to prevention strategies in humans.