Dissecting the genetic contributions to fetal alcohol spectrum disorders

摘要

ABSTRACT While prenatal alcohol exposure is required for fetal alcohol spectrum disorders (FASD) it is clear that there is substantial variation in the clinical and physical manifestations of this teratogenic exposure. Even children with similar prenatal alcohol exposure can have quite different outcomes. It is hypothesized that other factors, some of which may be genetic, contribute to this variation. One of the significant challenges in studies of FASD is the ability to recruit large numbers of individuals in order to evaluate broad hypotheses and obtain results that are generalizable to the overall population. This clinical research project is designed to address this challenge by implementing innovative online approaches to recruit and consent a large cohort of individuals suspected to have been exposed to alcohol prenatally. These individuals will have the opportunity to participate in multiple assessments (saliva for DNA, 2D facial images, neurobehavioral assessments) that will generate data used in several Collaborative Initiative on Fetal Alcohol Disorders (CIFASD) projects. In addition, the individuals recruited into this online cohort can be recruited to participate in other clinical research projects, including interventional studies proposed as part of CIFASD. Data obtained online from this new cohort will also be used to identify a subset of individuals with the most extreme phenotypes resulting from prenatal alcohol exposure. DNA from a targeted subset of study subjects will be used to obtain whole exome sequencing to efficiently identify novel risk and resilience factors related to the phenotypic effects of prenatal alcohol exposure. Results will be shared and compared with CIFASD basic research projects utilizing animal models to identify risk factors. This clinical research project is highly integrated within CIFASD and interacts closely with all four resources as well as multiple clinical and basic research projects.