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  Vol 429 No 6990 (Insight) pp439-481

27 May 2004

  introduction
  overview
  review articles
  commentary

Human genomics and medicine

CHRIS GUNTER
Chris Gunter Senior Editor

Last year the official completion of the human genome sequence was announced, capping years of hard work. Now that the flashbulbs have dimmed, scientists are taking a hard look at the results. Benefits of the sequence were prophesied to include 'magic bullet' therapeutics, individualized medicine, and the prediction of disease long before symptoms surface. But to realize these breakthroughs, we must fashion the four-letter code we all share into tools physicians can use, and ensure that these tools are readily available. Although one graduate student can now make huge strides with access to the Internet and basic molecular biology equipment, true success may demand nothing short of entirely new methods of clinical study and reorganization of existing academic structures.

As the articles in this Nature Insight demonstrate, the intersection of genomics and clinical practice is a busy and fascinating place. The road to treatments based on genomic information has not been smooth, but clinical trials are underway for a number of new therapies. New methods of mutation screening are emerging, both for the genome and for the 'epigenome' layered onto it. An understanding of the many mutations that underlie complex diseases and adverse drug reactions is now in our sights, aided by a large international effort to define the differences between our individual genomes. And the availability of genome sequence from our close and far evolutionary relatives is helping us to decipher the signals of genes and regulatory elements from the noise of background DNA, which is not yet fully understood.

The genome community's strong tradition is a rich debate of ideas; we have captured some of them in this collection and hope to stimulate more. You'll find our comprehensive human genome resource at http://www.nature.com/nature/focus/humangenome, including the papers published in this very issue on the sequences of human chromosomes 9 and 10.

 introduction
  Human genomics and medicine 439
CHRIS GUNTER
doi:10.1038/429439a
Full text | PDF (206k)
 overview
  Genomes for medicine 440
DAVID R. BENTLEY
doi:10.1038/nature02622
Summary | Full text | PDF (241k)
 review articles
  Mapping complex disease loci in whole-genome association studies 446
CHRISTOPHER S. CARLSON, MICHAEL A. EBERLE, LEONID KRUGLYAK & DEBORAH A. NICKERSON
doi:10.1038/nature02623
Summary | Full text | PDF (399k)
  Predicting disease using genomics 453
JOHN BELL
doi:10.1038/nature02624
Summary | Full text | PDF (276k)
  Epigenetics in human disease and prospects for epigenetic therapy 457
GERDA EGGER, GANGNING LIANG, ANA APARICIO & PETER A. JONES
doi:10.1038/nature02625
Summary | Full text | PDF (2265k)
  Moving towards individualized medicine with pharmacogenomics 464
WILLIAM E. EVANS AND MARY V. RELLING
doi:10.1038/nature02626
Summary | Full text | PDF (362k)
  Oncogenomics and the development of new cancer therapies 469
ROBERT L. STRAUSBERG, ANDREW J.G. SIMPSON, LLOYD J. OLD & GREGORY J. RIGGINS
doi:10.1038/nature02627
Summary | Full text | PDF (5856k)
 commentary
  The case for a US prospective cohort study of genes and environment 475
FRANCIS S. COLLINS
doi:10.1038/nature02628
Summary | Full text | PDF (392k)
  Organizational challenges in clinical genomic research 478
JILL S. ALTSHULER AND DAVID ALTSHULER
doi:10.1038/nature02629
Summary | Full text | PDF (270k)
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