Validate genomic variants causing human birth defects to bridge the gap from identification to functional impact using genetic data and in-silico tools.
NIH invites pediatric cohort samples for sequencing and other molecular analyses to uncover the genetic basis of childhood cancers and congenital anomalies, with data shared through Kids First.
NIH funds centers to systematically test how genomic variants affect genome function and phenotypes, develop reproducible data pipelines, and collaborate in a consortium; clinical trials are not allowed.
Develop new screening methods and treatments for newborns with potentially fatal or disabling disorders identified through newborn screening, focusing on high priority genetic conditions with potential for future screening.
Funding for innovative methods to screen and treat potentially fatal disorders in newborns, including genetic conditions needing screening advancements.
Study the natural history of newborn screening disorders to improve treatment, genetic understanding, and outcomes for infants.