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Dr. Thomas Cunningham and Elizabeth Hill

Grant Title: Generation of Humanised STX6 Overexpression Mice to Study Prion Disease Genetic Risk and as a Model for Therapeutic Intervention

Location: MRC Prion Unit at UCL, Institute of Prion Diseases, London

Grant Year: 2023

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.

About the Researchers:

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.

Recipient of:

The Strides for CJD Research Grant

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.