Modules, networks and systems medicine for understanding disease and aiding diagnosis

Gustafsson M1, Nestor CE1, Zhang H1, Barabási AL2, Baranzini S3, Brunak S4, Chung KF5, Federoff HJ6, Gavin AC7, Meehan RR8, Picotti P9, Pujana MÀ10, Rajewsky N11, Smith KG12, Sterk PJ13, Villoslada P14, Benson M1.


Many common diseases, such as asthma, diabetes or obesity, involve altered interactions between thousands of genes. High-throughput techniques (omics) allow identification of such genes and their products, but functional understanding is a formidable challenge. Network-based analyses of omics data have identified modules of disease-associated genes that have been used to obtain both a systems level and a molecular understanding of disease mechanisms. For example, in allergy a module was used to find a novel candidate gene that was validated by functional and clinical studies. Such analyses play important roles in systems medicine. This is an emerging discipline that aims to gain a translational understanding of the complex mechanisms underlying common diseases. In this review, we will explain and provide examples of how network-based analyses of omics data, in combination with functional and clinical studies, are aiding our understanding of disease, as well as helping to prioritize diagnostic markers or therapeutic candidate genes. Such analyses involve significant problems and limitations, which will be discussed. We also highlight the steps needed for clinical implementation.

© 2014 Gustafsson et al.; licensee BioMed Central Ltd.
Genome Med. 2014; 6(10): 82.
Published online 2014 Oct 17. doi:  10.1186/s13073-014-0082-6