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唐氏综合征的挑战。

The challenge of Down syndrome.

作者信息

Antonarakis Stylianos E, Epstein Charles J

机构信息

Department of Genetic Medicine and Development, University of Geneva Medical School, University Hospitals of Geneva, 1 rue Michel-Servet, 1211 Geneva, Switzerland.

出版信息

Trends Mol Med. 2006 Oct;12(10):473-9. doi: 10.1016/j.molmed.2006.08.005. Epub 2006 Aug 28.

Abstract

Down syndrome (DS) has been recognized as a clinical entity for about 150 years, but it is only recently that there has been hope for the possibility to understand its pathogenesis and to use this information to devise approaches for the prevention and treatment of its numerous features. The earlier pessimism was due to several reasons, including: (i) the nature of the genetic defect that leads to the syndrome; (ii) the multiplicity of systems involved; and (iii) the high degree of variability of the phenotype. However, science has now caught up with the problem, and recent developments, especially in genetics, genomics, developmental biology and neuroscience, suggest that these potential impediments might not be as arduous as once appeared. As a result, basic research on DS is now rapidly accelerating, and there is hope that the findings will be translatable into benefit for people with DS.

摘要

唐氏综合征(DS)作为一种临床病症已被认知约150年,但直到最近,人们才有望了解其发病机制,并利用这些信息设计出预防和治疗其众多特征的方法。早期的悲观情绪源于多种原因,包括:(i)导致该综合征的基因缺陷的性质;(ii)涉及的系统的多样性;以及(iii)表型的高度变异性。然而,科学现在已经跟上了这个问题的步伐,最近的进展,特别是在遗传学、基因组学、发育生物学和神经科学方面的进展表明,这些潜在的障碍可能并不像曾经看起来的那么艰巨。因此,目前关于唐氏综合征的基础研究正在迅速加速,人们希望这些研究结果能够转化为对唐氏综合征患者有益的成果。

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