Our research

Our main focus is understanding peripheral pathology in Huntington’s disease (HD) and to investigate its importance for disease pathogenesis and biomarkers.

HD is the most common inherited neurodegenerative disorder and is often regarded as a model for both sporadic and inherited neurodegenerative diseases. Many clinical features of HD can be ascribed to the dysfunction and death of neurons but the evidence is emerging of a role for non-neuronal cells and tissue in the pathogenesis of HD. The causative mutant huntingtin protein is expressed throughout the body, and several disease features cannot be accounted for by neuronal pathology alone. In neurodegenerative diseases in general, non-neuronal tissue and cells are increasingly thought to influence neuronal dysfunction and death.

We base our work on the hypothesis that insights into peripheral pathology in HD will improve knowledge of key pathogenic mechanisms, possibly providing new biomarkers and novel therapeutic targets.

Aims

• To understand the underlying pathological mechanism in Huntington’s disease.

• To find new pharmacological approaches for Huntington’s disease.

• To find reliable markers of disease progression and markers that alter with treatment.

Impact

Advances in understanding the pathogenesis of neurodegenerative disease and the discovery of parallel biomarkers are crucial for future therapeutic studies. We aim to increase understanding of the underlying mechanisms behind peripheral pathology such as weight loss and altered metabolism observed with HD disease progression, as well as provide new disease-modifying targets.

Ongoing and upcoming strategies to lower mutant huntingtin in the brain provide promising strategies by which to affect central pathology. In light of this, there is increasing interest in the importance of peripheral pathology in HD, as well as treatment strategies targeting the whole body.

How our research contributes to the goals of MultiPark

Increased understanding of Huntington’s disease mechanisms will be translated into potential new disease progression markers and new pharmacological strategies. Our research addresses the aims of MultiPark's working groups 1,4 and 6. 

Research Team & Publications

Read about publications and research team members of the Brain Disease Biomarker Unit in the LU Research Portal.