Genetic Prion Disease

Prion diseases are neurodegenerative diseases caused by the generation of a misfolded form of the prion protein (PrP). Genetic mutations within the PrP gene act to destabilize PrP, causing it to misfold into an abnormal shape. This misfolded PrP accumulates and causes neuronal toxicity. While everyone carries two copies of every gene, only one copy of the PrP gene is mutated in genetic prion diseases. In this study, we will attempt to alleviate the development of prion disease using a transgenic mouse model of genetic prion disease developed in our lab. We will specifically inhibit the mutated gene to significantly reduce the levels of only the mutated PrP, leaving non-mutated PrP unaffected. This targeted gene-therapy will be tested in cultured cells, then neuronal cultures from our transgenic mice, and then in live mice. These studies will be used as the foundation for strategies to treat genetic diseases in humans.

Other Grants

Sarah C. Goetz, Ph.D., Duke University
Uncovering a Novel Role for Primary Cilia in Eph/Ephrin Signaling in Neurons
2022 Seed GrantSarah C. Goetz, Ph.D. Duke University Women’s Council Seed Grant Primary cilia are tiny projections from cells that function like an antenna- they receive and may also send…
Erin M. Gibson, Ph.D., Stanford University
Circadian Regulation of Oligodendroglial Senescence and Metabolomics in Aging
2022 Seed GrantErin M. Gibson, Ph.D.Stanford University The brain consists of two main classes of cells, neurons and glia. Glia make-up more than half of the cells in the brain…
Yvette Fisher, Ph.D., University of California, Berkeley
Dynamic Modulation of Synaptic Plasticity During Spatial Exploration
2022 Seed GrantYvette Fisher, Ph.D.University of California, Berkeley The Virginia (Ginny) & Roger Carlson Seed Grant Cognitive flexibility is critical for appropriately adjusting thoughts and behaviors to meet changing demands…
Byoung Il Bae, Ph.D., University of Connecticut
Unique Vulnerability of Developing Human Cerebral Cortex to Loss of Centrosomal Protein
2022 Seed GrantByoung Il Bae, Ph.D.University of Connecticut Carl & Marilynn Thoma Foundation Seed Grant The cerebral cortex is the largest and outermost part of the human brain. It is…