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Medicine

Short cut to disease genes

Nature volume 414, pages 705–706 (2001)Cite this article

There are thousands of inherited human diseases. For the most part, the genes that are mutated in these diseases are unknown. But a new approach could save time and effort in identifying the genes responsible.

Finding genes that are implicated in human diseases has never been easy. But when it comes to genetically complex diseases, such as diabetes or psychiatric disorders, the task is particularly hard. The reasons are clear: there can be many, diverse genes involved; their individual effects are weak; and the background noise from non-genetic influences can be deafening. Moreover, a major bottleneck — even for disorders caused by mutation of a single gene — is 'mapping' the defect to a small enough genomic region for the gene to be identified. Researchers typically sift through tens or hundreds of candidate genes in a mapped region, hoping to find some that are functionally relevant or strongly expressed in the affected tissue. Writing in Cell, Cepko and colleagues1 suggest that the whole process could be short-circuited by taking a different tack — first finding genes that are preferentially expressed in a given tissue, and then looking to see if those genes are located in mapped genomic regions that contain unidentified disease genes.

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Figure 1: Serial analysis of gene expression (SAGE) in the retina, as carried out by Cepko and colleagues1.

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Authors and Affiliations

  1. MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU, UK

    Alan F. Wright & Veronica Van Heyningen

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  1. Alan F. Wright
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  2. Veronica Van Heyningen
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Correspondence to Alan F. Wright.

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Wright, A., Van Heyningen, V. Short cut to disease genes. Nature 414, 705–706 (2001). https://doi.org/10.1038/414705a

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