04-07-2012 07:50 Conference by Fyodor Kondrashov, ICREA Research Professor, leader of the laboratory Evolutionary Genomics, within the Bioinformatics & Genomics research programme, at the Centre for Genomic Regulation, in Barcelona, Spain. In this talk he discusses the work that his lab does and the role of bioinformatics in the study of disease-causing mutations in humans. The study of the genome through sequencing produces an enormous quantity of data. This data is analysed by bioinformatics researchers dedicated to the management and analysis of all of the information obtained when a genome is sequenced via, for example, mathematical, biological, computer and statistical tools. Personalised medicine is based on the premise that if a disease is caused by a mutation of a patient's genome, this mutation will always produce the same effect in another person: the effect is stable and constant, independently of whom the individual might be. However, recent research suggests that this effect may depend on the combination with other mutations. In some cases, it can be demonstrated that two "bad" mutations could combine to produce a perfectly healthy person, meaning that in the world of genetics, two "negatives" sometimes make a "positive". It is also likely that some mutations which cause disease may be benign if combined with other genetic changes, although this phenomenon has not yet been observed in humans. This is discouraging for personalised medicine, as the study of mutation interaction ...
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