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Hunting Mutations, Targeting Disease

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Science  25 Sep 2015:
Vol. 349, Issue 6255, pp. 1470-1471
DOI: 10.1126/science.349.6255.1470

Genomic data centers that help connect human mutations to illness continue to expand. This one at the Sanger Institute in Hinxton, U.K., currently has 16 petabytes of DNA sequence information on file.


As sequencing technology races toward ever cheaper, faster, and more accurate ways to read an individual's entire genome, understanding the health implications of variations in the genetic code becomes more crucial. This genetic variation can be as small as a single nucleotide base-pair change, insertion, or deletion, or as large as the gain or loss of multiple chromosomes.

Genetic mutations can cause suffering and early death. It is thus vital to understand their origins and how they affect biological function. Some deleterious mutations may arise and be maintained over generations within populations. These may only come to light when an individual carries two copies, as for a recessive Mendelian trait. Others may be exposed as soon as they arise within an individual. Such mutations can cause developmental defects if they occur very early in life, or contribute to aging and disease, notably cancer, in later life.

Recent technological advances have made it easier to detect human mutations and link them to pathology. Our ability to identify and target cancer-specific mutations has opened up a new and promising line of research. The rise of new genetic editing tools and a deeper understanding of the genetic architecture of traits, combined with reproductive technologies, offer the possibility to eliminate or mitigate the deleterious impact of mutations. While some mutations are easier to target than others, which can cause frustration at the pace of translating genetic information into medical help, enormous progress has arguably been made in the decade since the first human genome was decoded—and there's the promise of even more clinical applications in the future.

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