Screening and Functional Validation of Human Birth Defects Genomic Variants (R01 Clinical Trial Not Allowed)

This grant, titled "Screening and Functional Validation of Human Birth Defects Genomic Variants," is directed towards exploring the genetic variants associated with varied congenital defects such as Structural Birth Defects (SBDs), Intellectual Developmental Disabilities (IDDs), and Inborn Errors of Metabolism (IEMs). This initiative is a result of the progress made in genotyping and next-generation sequencing technologies that have helped in identifying these genetic variants.

There is a wealth of genomic data available on pediatric birth defects populations, sourced from several databases like The Database of Genotypes and Phenotypes, The Gabriella Miller Kids First Data Resource Portal, the European Genome-Phenome Archive, and Clinical Genome Resource. This data will serve to be highly instrumental for researchers involved in the study.

The essence of this initiative is to foster the screening, functional validation, and characterization of genetic variants linked to birth defects using publicly accessible databases and individual attempts. Various methods such as in-silico tools, appropriate animal models, in vitro systems, or multi-pronged approaches can be employed for this purpose.

The initiative aims to bridge the challenging gap between the identification of potentially interesting sequence variations and understanding which of these variations have functional impacts on the phenotype of concern. Note that this project does not involve conducting any clinical trial.