Dolled-Filhart Marisa P, Lordemann Amanda, Dahl William, Haraksingh Rajini Rani, Ou-Yang Chih-Wen, Lin Jimmy Cheng-Ho
Rare Genomics Institute, 4100 Forest Park Avenue, Suite 204, St Louis, MO 63108, USA.
Washington University School of Medicine in St Louis, Genome Technology Access Center (GTAC), Genomics & Pathology Services (GPS), Campus Box 8118, 660 South Euclid Avenue, St Louis, MO 63110, USA.
Per Med. 2012 Nov;9(8):805-819. doi: 10.2217/pme.12.97.
A decade after the complete sequencing of the human genome, combined with recent advances in throughput and sequencing costs, the genetics of rare diseases has entered a new era. There has now been an explosion in the identification and mapping of rare diseases, with over 10,000 exomes having been sequenced to date. This article surveys the progress and development of technologies to understand rare disease; it provides a historical overview of traditional techniques such as karyotyping and homozygosity mapping, reviews current methods of whole-exome and -genome sequencing, and provides a future perspective on upcoming developments such as targeted drugs and gene therapy. This article will discuss the implications of these methods for rare disease research, along with a discussion of the success stories that provide great hope and optimism for patients and scientists alike.
人类基因组完全测序十年后，再加上通量和测序成本方面的最新进展，罕见病遗传学已进入一个新时代。目前，罕见病的识别和定位出现了爆发式增长，迄今已有超过1万个外显子组被测序。本文综述了用于了解罕见病的技术的进展与发展；提供了诸如核型分析和纯合性定位等传统技术的历史概述，回顾了全外显子组和全基因组测序的当前方法，并对靶向药物和基因治疗等即将到来的发展给出了未来展望。本文将讨论这些方法对罕见病研究的影响，同时讨论那些为患者和科学家都带来巨大希望和乐观情绪的成功案例。
