Ginn Samantha L, Alexander Ian E
Gene Therapy Research Unit, Children's Medical Research Institute and The Children's Hospital at Westmead, Australia.
J Paediatr Child Health. 2012 Jun;48(6):466-71. doi: 10.1111/j.1440-1754.2011.02204.x. Epub 2011 Oct 21.
The recent sequencing of the human genome combined with the development of massively high throughput genetic analysis technologies is driving unprecedented growth in our knowledge of the molecular basis of disease. While this has already had a major impact on our diagnostic power, the therapeutic benefits remain largely unrealised. This review examines progress in the exciting and challenging field of gene therapy. In particular we focus on the treatment of genetic disease in infants and children where the most significant successes have been observed to date, despite the majority of trial participants being adults. Notably, gene transfer to the haematopoietic compartment has provided the clearest examples of therapeutic benefit, particularly in the context of primary immunodeficiencies. The triumphs and tribulations of these successes are explored, and the key challenges confronting researchers as they seek to further advance the field are defined and discussed.
人类基因组的最新测序，结合大规模高通量基因分析技术的发展，正推动我们对疾病分子基础的认识取得前所未有的增长。虽然这已经对我们的诊断能力产生了重大影响，但治疗益处仍基本未实现。本综述探讨了基因治疗这一令人兴奋且具有挑战性的领域的进展。特别是，我们关注婴儿和儿童遗传疾病的治疗，尽管大多数试验参与者是成年人，但迄今为止在这方面观察到了最显著的成功。值得注意的是，向造血系统进行基因转移已提供了最明确的治疗益处实例，尤其是在原发性免疫缺陷的背景下。我们探讨了这些成功的辉煌与波折，并界定和讨论了研究人员在寻求进一步推动该领域发展时所面临的关键挑战。
