Human genetics studies have identified Syntaxin-6 as a risk gene for sporadic CJD, with higher gene activity levels linked to increased risk. Our group has shown that lowering the levels of Syntaxin-6 has a protective effect in a mouse model of prion disease. Our proposed work aims to increase the levels of syntaxin-6 in mice to better mimic the disease context. If this accelerates disease progression following infection of these mice with prions, this will provide strong evidence that Syntaxin-6 has a pathological role in prion disease, and enable further studies on how this effect occurs. Furthermore, this new mouse model will allow the testing of syntaxin-6 lowering therapeutics as a novel strategy to treat prion diseases.
Dr. Thomas Cunningham
MRC Prion Unit at UCL, Institute of Prion Diseases, London
Dr Cunningham leads the Mouse Models of Prion Disease research group at the MRC Prion Unit and Institute of Prion Diseases, University College London, UK, with expertise in genome engineering, mouse genetics, and studying mouse models of neurodegeneration. His current work is focused on better understanding the molecular and phenotypic nature of prion disease, including modeling inherited prion disease variants, and working together with colleagues in human genetics to understand genetic risk factors.
Miss Elizabeth Hill
Miss Elizabeth Hill is a PhD student at the MRC Prion Unit and Institute of Prion Diseases, University College London, UK. She is exploring the mechanistic role of a prion disease risk gene, STX6, using both cellular and mouse models.
Contributed by: Karla Piriz and Lauren Piriz
This grant was established in 2015.
Contributed by: His Daughters, Extended Family, and Friends
Established in 2022.
Contributed by: The Glavan and Gallagher families
Established in 2022.
Contributed by: His Family
Established in 2022.
Contributed by: Olivia Melamed and Family and Friends
Established in 2019.
Contributed by: The Families of the CJD Foundation
Funds raised by the annual Strides for CJD run/walk have been applied to research grants awarded since 2016.
Contributed by: Jeanne Cole
Established in 2015.
Contributed by: Sandra (Cookie) Stivison
Established in 2015.
This website was made possible by a generous donation from Cookie Stivison, in memory of her husband Tom Stivison, and a grant from the Centers for Disease Control and Prevention.
