Improved genomic tools and advanced technological platforms should make it feasible to understand the genetic basis of every monogenic disorder � over 1,800 of which are known in humans � and in the process uncover new mechanisms of genetic disease. These findings will have a bearing on disease diagnosis and management and, importantly, should also inform complex disease aetiology. This Focus issue stresses the need for more research on monogenic disorders and the unique opportunity they offer for developing treatments, from aiding drug target identification to a host of genetic medicines. The articles are freely available for one month.
From the Editors
Reviews
Human monogenic disorders � a source of novel drug targets
Ryan R. Brinkman, Marie-Pierre Dub�, Guy A. Rouleau, Andrew C. Orr and Mark E. Samuels
doi:10.1038/nrg1828
Nature Reviews Genetics 7, 4 249-260
Pharmaceutical industry and medical professionals have been concerned by the lack of novel drugs and drug candidates in the pipeline. These authors discuss evidence to indicate that human monogenic disorders are a valuable, but so far largely neglected, source of novel drug targets.
Genetic medicines: treatment strategies for hereditary disorders
Timothy P. O'Connor and Ronald G. Crystal
doi:10.1038/nrg1829
Nature Reviews Genetics 7, 4 261-282
More than 1,800 genes are known to cause hereditary disorders in humans. This review discusses the use of genetic medicines to treat monogenic hereditary disorders, and the technical, regulatory and economic challenges that genetic medicine must confront to become a reality.
Perspectives
Mendelian disorders deserve more attention
Stylianos E. Antonarakis and Jacques S. Beckmann
doi:10.1038/nrg1826
Nature Reviews Genetics 7, 4 277-318
Multifactorial disorders have grabbed the limelight in recent years, at the expense of research on monogenic traits. This shift in emphasis might not be fully justified, given the insight that seemingly 'simple' disorders can bring to genome function and complex disease aetiology.
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