Federal Grant Award Summary

The University of California, San Diego received a $711,432 Project Grant award from the National Institute of Child Health and Human Development (NICHD) under the Child Health and Human Development Extramural Research program (CFDA 93.865), effective May 15, 2026, with completion expected February 28, 2031. This award supports research investigating the molecular mechanisms of meningomyelocele (spina bifida), the most common central nervous system congenital malformation in the United States. The research focuses on identifying de novo mutations and gene-environment interactions related to folic acid exposure that contribute to disease risk and phenotypic expression.

The funded research initiative builds upon preliminary work establishing the Spina Bifida Sequencing Consortium, which has enrolled 1,500 meningomyelocele trios stratified by prenatal folic acid exposure. The project will deliver whole exome and whole genome sequencing analyses, candidate gene identification, and mechanistic studies to advance understanding of this high-heritability developmental disorder affecting over 200,000 patients in the United States. Deliverables include expanded cohort analysis, identification of recurrent chromosomal abnormalities and novel risk genes influencing meningomyelocele susceptibility, and insights into the critical gene-environment interactions that influence disease manifestation despite decades of national folic acid supplementation programs.