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It is our great pleasure to introduce this Special Review Issue - DNA repair and somatic repeat expansion in Huntington’s disease – for the Journal of Huntingtons Disease and to thank the Review Editors Lesley Jones (Cardiff University), Christopher Pearson (Hospital for Sick Children, University of Toronto) and Vanessa Wheeler (Massachusetts General Hospital) for putting this timely and exciting issue together. DNA repair pathways have emerged as potential age-of-onset modifiers through genetic studies of Huntington’s disease and the further expansion of CAG repeats within the brain has been implicated in pathogenesis and disease progression.

In this issue, the review editors have compiled a compendium of new reviews on topics ranging from the discovery of somatic repeat expansion in HD, to our current understanding of the molecular mechanisms involved, and the development of potential new therapies targeting these mechanisms.


We also dedicate this special issue in memory of Professor Sir Peter Harper (1939– 2021). Prof Harper was a visionary geneticist, instrumental in the discovery of the repeat mutations causing Huntington’s disease and myotonic dystrophy. He continued to influence the Huntington’s disease field though his perceptive anticipation of what these genetic discoveries would mean for patients, their families, and the direction of HD research. He wrote and edited seminal texts on HD, myotonic dystrophy and genetic counselling, implemented new clinical services, and influenced health policy in genetics. He was a generous and engaged mentor to a whole generation of clinical and non-clinical researchers in HD and other repeat disorders.

We hope that you will enjoy this Special Review Issue of the Journal of Huntington’s Disease as much as we have!