Research

The research group studies the underlying pathogenic mechanisms of the neurodegenerative and neuropsychiatric Huntington disease (HD) with the ultimate aim to develop novel effective therapies. HD is a devastating disorder always caused by an expanded CAG triplet repeat mutation in the huntingtin gene. Importantly, individuals with the mutant HD gene suffer from psychiatric symptoms and metabolic dysfunction many years before onset of typical motor symptoms. Our hypothesis is that the non-motor features are due to hypothalamic pathology. We have previously shown that hypothalamic changes occur early in clinical HD and we have established a causal relationship between hypothalamic huntingtin and the development of metabolic and psychiatric disturbances in mice. Ongoing work will identify key molecular pathways and the critical neuronal circuitries affected early in the HD hypothalamus in order to develop disease modifying treatments.