title: The role of genomics in prevention or reducing the impact of congenital malformations.
abstract: Congenital malformations (CMs) are permanent changes produced by abnormality of development in a body structure during prenatal life. Population based studies place the incidence of major malformations at about 2-3% of all live births. The etiology is mostly due multifactorial inheritance or unknown (50-80%). The continuum and gradual shift from genetics to genomics will offer new possibilities for diagnosis, treatment, prediction and prevention of congenital malformations. Genomics has many tools including pathogenomics, pharmacogenomics, nutrigenomics and bioinformatics. Pathogenomics will help to discover new genes or susceptibility genes and genetic variants with a role in the pathogenesis of CMs. Pharmacogenomics will identify genetic variants affecting the response to drugs and it should be applied to study drug induced birth defects. Nutrigenomics will determine the impact of diet on genome stability and how genotype determines nutritional requirements. Bioinformatics then will collect, store obtained data, which will facilitate analysis of systems biology questions involving relationships between genes, their variants and biological functions. This knowledge should be translated into more sensitive and specific genetic tests.
authors.affiliation: Pediatrics Department, Ain Shams University, Cairo, Egypt. shawkyrabah@yahoo.com
authors.forename: R M
authors.initials: RM
authors.lastname: Shawky
authors.forename: D I
authors.initials: DI
authors.lastname: Sadik
mesh_terms: D000013:Congenital Abnormalities / Q000235:genetics* / Q000517:prevention & control*; D023281:Genomics / Q000639:trends*; D006801:Humans; D054647:Nutrigenomics / Q000639:trends; D010597:Pharmacogenetics / Q000639:trends*; D012307:Risk Factors