NIH R01 · 2025
Leveraging modulation of polyamine metabolism for therapeutic advantage in genetic disorders
ABSTRACT We are at the forefront of investigating novel neurodevelopmental disorders associated with polyamines. Our overarching hypothesis is that mutations in genes of the polyamine pathway result in pathologically unbalanced polyamine profiles in affected individuals that lead to neurodevelopmental disorders. Specifically, Bachmann- Bupp Syndrome (BABS) is an autosomal dominant genetic disorder caused by heterozygous de novo variants in the ornithine decarboxylase 1 (ODC1) gene, and Snyder-Robinson Syndrome (SRS) is an X-linked genetic disorder that results from mutations in the spermine synthase (SMS) gene. Both ODC1 and SMS are sentinel genes in the regulation of polyamine metabolism.…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.