Christos A. Ouzounis
From reading to writing (and rewriting) the code of life: the future |
 |
| Christos A. Ouzounis | |
| Principal Investigator at the Centre for Research & Technology Hellas (CERTH), Thessalonica, Greece, and a visiting Professor at The Terrence Donnelly Centre for Cellular & Biomolecular Research (CCBR), University of Toronto, Canada |
Abstract
The rapid progress in DNA sequencing technology is poised to transform
the management of human health and disease. The findings of the human
genome sequence have expanded from genetics into human variation,
pharmacogenomics and clinical practice. These overarching implications
have revealed certain ethical, legal and social issues that will need
to be addressed by society at large.
We review basic ideas in large-scale biology, the deciphering of our
own genome, examples of mini-breakthroughs in medicine, and the vast
quantities of data that have emerged from sequencing. We are now at a
point where instead of addressing therapies, we are uncovering genetic
variations less prone to disease.
The management of human health and well-being is impacted by the
genomic revolution. Human genome equivalent quantities are of the
order of thousands and probably soon millions. This wealth of
information can transform patient management from general practice to
personalized medicine and personal genomics. Patient and citizen
participation in this endevour becomes essential.
Thus, as modern medicine concentrates on the p4 concept – predictive,
preventive, personalized and participatory – it will require a totally
different approach from traditional practice. Precision and
effectiveness will become key. Differential and early diagnosis are
within reach, with low cost and high accuracy.
Patients and citizens will not only request access rights to data but
will probably demand right of exchange of genetic information. We will
thus be moving from a 'subject' to a 'consumer' role, with significant
implications for clinical genetics.
References:
[1] Ouzounis CA (2012) Rise and demise of bioinformatics? Promise and
progress. PLoS Comput. Biol. 8(4), e1002487.
[2] Valeyev NV, Hundhausen C, Umezawa Y, Kotov NV, Williams G, Clop A,
Ainali C, Ouzounis C, Tsoka S, Nestle FO (2010) A systems model for
immune cell interactions unravels the mechanism of inflammation in
human skin. PLoS Comput. Biol. 6(12), e1001024.
[3] Juncker AS, Jensen LJ, Pierleoni A, Bernsel A, Tress ML, Bork P,
von Heijne G, Valencia A, Ouzounis CA, Casadio R, Brunak S (2009)
Sequence-based feature prediction and annotation of proteins.
GenomeBiology 10, 206.
BIOGRAPHICAL SKETCH
Christos A. Ouzounis is a Principal Investigator at the Centre for Research & Technology Hellas (CERTH), Thessalonica, Greece, and a visiting Professor at The Terrence Donnelly Centre for Cellular & Biomolecular Research (CCBR), University of Toronto, Canada. He received his PhD from the University of York, United Kingdom, for research carried out at EMBL (-1993), and was a Human Frontiers Science Program (HFSP) postdoctoral fellow at the AI Center, SRI International in Menlo Park, CA (-1996). He later led the Computational Genomics Group at EMBL's European Bioinformatics Institute (Cambridge, United Kingdom) (-2005), the Computational Genomics Unit at CERTH (-2007), and the Centre for Bioinformatics at King's College London (-2010). He is an Associate Editor for PLoS Computational Biology, PLoS ONE, and BioSystems, has been an Associate Editor for Bioinformatics, and an editorial board member of a number of journals and the Faculty of 1000. He is a founding officer of the International Society for Computational Biology (ISCB), the Mikrobiokosmos initiative (Greece), and the Hellenic Society for Computational Biology and Bioinformatics (HSCBB). His scientific interests revolve around genome structure, function and evolution, biological sequence comparison, knowledge representation for genomics, synthetic biology, exobiology, personalized biomedicine, and science communication. He has published over 170 scientific reports, which received over 9,500 citations over 20 years, with an h-index of 54. Some of his best known contributions in the field of computational genomics include automated sequence annotation, the discovery of genomic context methods, the inference of metabolic pathways from genome sequences, the development of methods for large-scale clustering of sequence similarities, the definition of the Last Universal Common Ancestor (LUCA), and the quantification of horizontal gene transfer patterns across the "net of life". He also maintains a strong interest in the development of computational biology as an exemplary paradigm in the history of contemporary science.
