Genetic Factors in Birth Defects

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications, trials & patents

Abstract

DNA has been obtained from approximately 20 major malformations for current and future investigations. We have recently expanded our investigations to include searching for copy number variants in rare defects. New York has an exceptionally valuable research resource in having approximately 250,000 births per year from which to identify children with rare defects. In addition to classic candidate gene approaches, cases have been selected for copy number variant studies. Our collaboration with the CDC's National Birth Defects Prevention Study and Dr. Paul Romitti at the University of Iowa is currently examining genetic data for associations with choanal atresia, a defect in which the nasal passages fail to develop normally. This study involves testing samples from New York State and from the collaborative group that formed the National Birth Defects Prevention Study. Other defects currently being studied include hypertrophic pyloric stenosis, omphalocele and craniosynostosis. The study participates in a multi-center investigator of the major types of craniosynostosis. We have established a collaboration with the Statens Serum Institut in Copenhagen, Denmark to examine genetic factors in congenital hydrocephalus. Laboratory analysis is complete and the interpretation of the results has begun. We also collaborate with the University of Iowa to examine genetic risk factors in club foot. Unfortunately, the pandemic has caused serious delays in these projects. We are currently collaborating with Dr. Paul Romitti and Dr. Marcia Feldkamp along with the CDC's National Birth Defects Prevention Study group to examine whole exome variants as risk factors for sacral agenesis and bladder exstrophy. We have been able to move these studies forward despite the pandemic. The report on bladder exstrophy has been accepted for publication and a draft manuscript on sacral agenesis has been written.