tailieunhanh - báo cáo khoa học: " Genome Medicine: past, present and future"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Genome Medicine: past, present and future | Auffray et al. Genome Medicine 2011 3 6 http content 3 1 6 w Genome Medicine EDITORIAL L_ Genome Medicine past present and future Charles Auffray1 Timothy Caulfield2 Muin J Khoury3 James R Lupski4-5 Matthias Schwab6-7 and Timothy Veenstra8 The field of genomic medicine continues to expand driven by the efforts of numerous researchers around the world. To celebrate Genome Medicine s 2nd anniversary we asked our Section Editors what they felt were the most exciting breakthroughs in research in the past 2 years and what the future of genomic medicine might hold. Transformational effect of systems medicine Since we discussed systems medicine as the future of medical genomics and healthcare in the inaugural issue of Genome Medicine 1 the field has witnessed transformational changes that have brought the prospect and promises of personalized medicine closer to reality. The exponential increase in DNA sequencing capabilities together with the rapidly declining associated costs has made whole-genome sequencing accessible to small laboratories and will soon transform it into a low cost analytical assay. These advances have enabled the emergence of medical systems genetics studies an approach in which the genetic determinants of diseases are investigated through sequencing of the complete genome of family relatives. For example sequencing and analysis of the genomes of two siblings and their parents made possible the direct measurement of the inter-generational mutation rate and identified genes potentially associated with two Mendelian disorders 2 the gene causing one of these disorders was precisely identified through further exome sequencing in additional diseased patients 3 . Another telling example of both the power and current limitations of the next-generation sequencing approaches is their application to the characterization of the genome epigenome and transcriptome of monozygotic twins discordant for multiple sclerosis which failed to .