The Children's Hospital Corporation, doing business as Boston Children's Hospital, has been awarded a $446,042 Project Grant from the National Human Genome Research Institute (NHGRI) under the Human Genome Research (CFDA 93.172) federal grant program. The project, titled "GENEPAL: A Portable Approach to Longitudinal Genomic Healthcare for Infants," aims to develop and evaluate a web-based application called "NEST" that will empower families to understand and obtain appropriate follow-up care for infants diagnosed with rare genetic conditions. The project will involve a mixed-methods approach to refine, implement, and evaluate NEST in a prospective cohort of infants. Key goals include improving health outcomes, optimizing management, and realizing the benefits of early genetic diagnosis. The findings will provide critical insights into the role of patient-facing clinical informatics tools for managing genomic diagnostic information in pediatric rare disease.
Generated 3/4/25, 6:51 AM