Study the natural history of newborn screening disorders to improve treatment, genetic understanding, and outcomes for infants.
Funding for innovative methods to screen and treat potentially fatal disorders in newborns, including genetic conditions needing screening advancements.
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.
This grant funds innovative natural history studies to improve understanding and support medical product development for rare diseases with unmet needs.
This grant funds innovative natural history studies to advance medical product development and address unmet needs in rare diseases by generating high-quality, interpretable data.
Validate genomic variants causing human birth defects to bridge the gap from identification to functional impact using genetic data and in-silico tools.