Thinking out of the tank

The EHDN Science Think Tank continues its work of reorganisation, rationalisation and innovation with the aim of keeping the network at the cutting-edge of HD research, and well-adapted to support complementary research efforts. It’s worth remembering that the research EHDN promotes isn’t just directed at finding new and better treatments.

It is equally important that we develop valid outcome measures, or phenotypes, and validated assessment tools, since all three will be needed to improve quality of life for those who carry the HD mutation. The EHDN working groups (WGs) continue to pursue their important scientific enquiries, and where necessary to refine their goals. To date, five WGs have issued mission statements that are available on the EHDN website. They are the Behavioural Phenotype, Cognitive Phenotype, Genetic Modifiers, Physiotherapy and Young Adults WGs. Along with the new task forces, the WGs aim to lay the groundwork for the identification of new treatments and the improvement of existing ones. The Genetic Modifiers WG is working to identify genetic variants that influence HD phenotypes independent of the HD mutation, the first step towards the development of treatments designed to exploit these effects. The Physiotherapy WG provides guidance for the use of physiotherapy in clinical practice and how best to promote an active lifestyle. The Behavioural Phenotype and Cognitive Phenotype WGs, along with the driving and dysphagia task forces, work on the definitions of clinical phenotypes and tools for assessing those phenotypes for use in research as well as in the clinic. A future goal of HD research is to offer treatments to people carrying the HD mutation before they develop the disease. To this end, it is vital to encourage young adults to feel a part of the community and to participate in research, which is the aim of the Young Adults WG.



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