Genetic Factors in Birth Defects

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This study is currently in the development phase. Staff are being recruited in New York State and the protocol is being developed by investigators from NICHD, The New York State Dept. of Health, and NHGRI. The next phase, which will begin in fiscal year 2008, is to identify cases with the major birth defects of interest from the Congenital Malformations Registry and select suitable control subjects. Once this is accomplished, data from the Registry will be linked with the State's newborn screening program to identify filter paper samples for the subjects. The filter paper samples will be taken from storage and the process of DNA extraction and aliquotting will begin. Concurrently, the investigators will be identifying candidate genes of interest and selecting variant single nucleotide polymorphisms (SNPs) for study.