A perspective on “cure” for Rett syndrome

被引：0
作者：
Angus John Clarke
Ana Paula Abdala Sheikh
机构：
[1] Cardiff University,Institute of Medical Genetics, Division of Cancer & Genetics, School of Medicine
[2] University of Bristol,School of Physiology, Pharmacology & Neuroscience
[3] University Hospital of Wales,Institute of Medical Genetics
来源：
Orphanet Journal of Rare Diseases | / 13卷
关键词：
2; Rett syndrome; Cure; Expectations; Gene therapy; Gene editing; Symptomatic treatment; Quality of life;
D O I：
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摘要：
The reversal of the Rett syndrome disease process in the Mecp2 mouse model of Guy et al. (2007) has motivated families and researchers to work on this condition. The reversibility in adult mice suggests that there is potentially much to be gained from rational treatments applied to patients of any age. However, it may be difficult to strike the right balance between enthusiasm on the one hand and realism on the other. One effect of this has been a fragmentation of the “Rett syndrome community” with some groups giving priority to work aimed at a cure while fewer resources are devoted to medical or therapy-based interventions to enhance the quality of life of affected patients or provide support for their families.
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