Heredity (2009) 102, 527–532; doi:10.1038/hdy.2009.18; published online 4 March 2009

Systems and Synthetic biology: tackling genetic networks and complex diseases

G Cuccato1,3, G Della Gatta1,3,4 and D di Bernardo1,2

  1. 1Systems Biology, Telethon Institute of Genetics and Medicine, Napoli, Italy
  2. 2Department of Computer Science and Systems, University of Naples ‘Federico II’, Napoli, Italy

Correspondence: Dr D di Bernardo, Systems Biology, Telethon Institute of Genetics and Medicine, Via P Castellino 111, Napoli 80131, Italy. E-mail:

3These authors contributed equally to this work.

4Current address: Institute for Cancer Genetics Columbia University, New York, NY 10032, USA.

Received 5 August 2008; Revised 13 January 2009; Accepted 19 January 2009; Published online 4 March 2009.



In the era of post-genomic research two new disciplines, Systems and Synthetic biology, act in a complementary way to shed light on the ever-increasing amount of data produced by novel high-throughput techniques. Systems biology aims at developing a formal understanding of biological processes through the development of quantitative mathematical models (bottom-up approach) and of ‘reverse engineering’ (top-down approach), whose aim is to infer the interactions among genes and proteins from experimental observations (gene regulatory networks). Synthetic biology on the other hand uses mathematical models to design novel biological ‘circuits’ (synthetic networks) able to perform specific tasks (for example, periodic expression of a gene of interest), or able to change the behavior of a biological process in a desired way (for example, modify metabolism to produce a specific compound of interest). The use of a pioneering approach that combines biology and engineering, to describe and/or invent new behaviors, could represent a valuable resource for studying complex diseases and design novel therapies. The identification of regulatory networks will help in identifying hundreds of genes that are responsible for most genetic diseases and that could serve as a starting point for therapeutic intervention. Here we present some of the main genetics and medical applications of these two emerging fields.


Systems biology, Synthetic biology, reverse engineering, GWA, microarray, synthetic network



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