NIH R01 · 2024
Islet Dysregulation in Infants with Congenital Hyperinsulinism
PROJECT SUMMARY Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infants and children. In the last 20+ years a total of 9 genetic loci have been associated with HI, however, in approximately 40-50% of cases a genetic cause is not identified. The elucidation of the molecular mechanisms responsible for HI is of great importance to guide the development of novel therapies and eventually, a cure. Building on the success of the previous cycles of this award, we propose a comprehensive approach to examine the mechanisms of disease for two novel forms of HI that we have previously mapped to specific genomic loci by linkage analysis and whole exome sequencing.…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.