The U.S. National Institute of Child Health and Human Development (NICHD) awarded a $182,000 Project Grant under CFDA 93.865 - Child Health and Human Development Extramural Research program to Children's Research Institute, a non-profit pediatric research organization in Washington, D.C. The grant, awarded on June 11, 2024 with a project period through May 31, 2026, will support efforts to rescue and curate genetic variant data on ornithine transcarbamylase (OTC) deficiency and N-acetylglutamate synthetase (NAGS) deficiency from legacy databases and natural history studies. This data will be published and submitted to ClinVar, a public database, to help clinical diagnostic laboratories and the NICHD-supported UCD Variant Curation Expert Panel accurately classify the pathogenicity of OTC and NAGS variants. Correctly classifying these variants is critical for accurate diagnosis, treatment, and reproductive counseling for patients with these rare urea cycle disorders.
Generated 3/4/25, 7:13 AM