Noticia

HORARIO: jueves 27 de marzo de 2014, a las 11,30

LUGAR: Salón de Grados de la Facultad de Biología

TÍTULO: "Genomics big data opens the door to precision medicine"

DURACIÓN: 90 minutos

RESUMEN: During the last years we have witnessed an astonishing development of the high throughput technologies. This revolution has had an especial impact in the field of sequencing where the new generations of sequencers can produce enormous amounts of data at affordable prices [1]. Nowadays the bottleneck of discovery has moved from the data production phase to the data analysis and interpretation phases. New ways of understanding and addressing complex biological problems beyond the conventional approaches from the molecular biology are arising from the computational biology [2]. Computational biology scientists have now the possibility of formulating and testing hypothesis as well as querying biological systems from a systems biology perspective using genomic data on gene activity (gene expression, methylation, etc.) and/or functionality (mutational spectrum).
The impact of this genomic revolution in the field of medicine has been enormous. Thus, the concept of personalized medicine has evolved to precision or P4 (Personalized, Predictive, Preventive and Participatory) medicine. In particular, Precision medicine needs of better ways of defining diseases by relating conventional clinical–pathological diagnostic criteria with state-of-the-art molecular profiling methodologies. A more precise diagnostic of the disease, based on the description of their molecular mechanisms would allow creating innovative diagnostic, prognostic, and therapeutic strategies precisely tailored to each patient’s requirements [3]. To achieve this, two main problems need to be addressed from a methodological point of view: how genomic features relate among them to give rise to disease phenotypes and how different measurements of different genomic features (i.e. nucleotide variants, gene expression, methylation, etc.) can be integrated to provide more precise descriptors of disease phenotypes. Both aspects have a strong computational component. In the coming years Biocomputing will become an increasingly important component of Medicine.

[1] Kahvejian, A., Quackenbush, J. & Thompson, J. F. Nat Biotechnol 26, 1125-1133 (2008).
[2] Berger, B., Peng, J. & Singh, M. Nat Rev Genet 14, 333-346 (2013).
[3] Mirnezami, R., Nicholson, J. & Darzi, A. N Engl J Med 366, 489-491 (2012).