I am a clinical geneticist with specialization neurogenetics, in particular Huntington disease. I am also a basic researcher and my major recent initiatives were to generate and characterize transgenic rat models for HD. We use them to understand cellular mechanisms of neuronal dysfunction and neurodegeneration, and to test therapeutic compounds. Further areas of research involve the search for genetic modifiers of age at onset in HD patients to identify potential therapeutic targets. Recently, we have used huntingtin lowering approaches and I have coordinated a European project on allele specific lowering of various PolyQ proteins.

I have been working on HD for more than 23 years and I have been involved with EHDN since the first meeting outside of Madrid in 2004. I am well connected in the HD field and many colleagues have become friends over the years. I have a good understanding of the ongoing major research directions and patients’ needs as I see more than 100 HD patients and at-risk persons per year in our HD center. Therefore, I am well equipped to serve on the EC for both research and patient related aspects. As I have coordinated several international, collaborative projects on HD, I am confident that I can help EHDN define and support research initiatives that have a good chance of receiving third party funding. As a clinical geneticist I can contribute to guidelines and recommendations on genetic testing questions both in a diagnostic and research context. With the genomics era on the horizon, our gained knowledge on genetic modifiers and new genetic tools available, I foresee that updated guidelines on diagnostics and novel genetic research directions in HD will be possible/needed. These possibilities will also have to be disseminated and communicated with the HD community. I’d like to help EHDN tackle these tasks.