Brain Penetrant Therapeutic Proteins for SETBP1 Haploinsufficiency Disorder
Awardee: Barbara Bailus
Institution: Keck Graduate Institute
Grant Amount: $45,832.00
Funding Period: February 1, 2023 - January 31, 2024
Summary:
SETBP1-HD is a neurodevelopmental disorder caused by a decreased amount of the SETBP1 protein, which plays a role in neuronal development, specifically in epigenetic modification. A potential treatment for this disorder would involve increasing SETBP1 levels in the brain. Several other disorders have been successfully treated by using a similar approach of directly providing the absent or reduced protein to the relevant tissue. This proposal aims to increase the levels of SETBP1 by creating novel therapeutic proteins that would have the ability to enter the brain from a peripheral injection through the use of a novel cell penetrating peptide (CPP). The CPP would act as a “keycard” to the brain allowing for the therapeutic proteins to enter. The CPP would make the potential treatment minimally invasive, titratable and with the ability to be removed if necessary. This proposal would test the therapeutic proteins in cellular models, with the aim to leverage this data to a future mouse study.