coordinator of the Bioinformatics and Genomics Programme at the Centre for Genomic Regulation (CRG)
Opinion
Ten years ago, in a rather unusual event for science, US president Bill Clinton and UK Primer Minister Tony Blair together announced that the human genome had been fully sequenced.
The Human Genome Project had begun ten years earlier, at the end of the 1980’s. It was chiefly funded by two national health institutes and the US Department of Energy, and drew on the efforts hundreds of science centers around the world. Incursion of the private sector —namely, via the company Celera Genomics, founded in 1998 by Applera Corporation and J. Craig Venter— really shook things up, converting the final stages of the project into a veritable race between the public and private sector initiatives.
The announcement generated grandiose expectations: the final code of life had been broken, and this knowledge would supposedly provide humanity with unprecedented power control over life. A future free of disease and ageing was purportedly on the horizon.
Sequencing of the human genome, and that of other species, has certainly had an extraordinary impact on biology research, to such an extent that it has almost become a prerequisite for the design and interpretation of certain experiments. The advances made in human genomics in the past few years have been spectacular, but unfortunately, they have not satisfied expectations, as they have not translated into effective tools for fighting disease. We still think, as we did ten years ago, that the genome sequence encodes the instructions that dictate the biological characteristics of living beings. However, we underestimated the difficulty of decoding these instructions, which are written in a language largely unknown to us which follows a syntax so complicated that we’ll soon run out of linguistic metaphors. We do know that delivery of these instructions begins with transcription, or copying, of certain regions of the genomes’s DNA (deoxyribonucleic acid) sequence into RNA (ribonucleic acid) sequences that, once processed, serve as a mold for synthesis of proteins —structural and functional components of cells. Nonetheless, the mechanisms that regulate DNA transcription, those that regulate subsequent processing of RNA molecules, and those by which proteins collaborate to produce a living cell, remain widely unknown to us. Understanding these mechanisms is the chief task in biology for the 21st century.
To complete this task, scientists have taken genomics down two paths over the past decade. Firstly, the genomes of an ever-increasing number of species and human individuals have been sequenced. By comparing sequences between species or between individuals of the same species, and by correlating variations in sequences with the biological characteristics shown by these organisms or individuals, researchers aim to identify the regions of the genome responsible for distinct biological traits. Secondly, researchers have developed increasingly sophisticated technologies for directly probing the biochemical activity of the genome in order to identify those genome regions in which RNA is transcribed or that are implicated in said transcription. Basically, these are the regions that confer the genome sequence with its functionality.
The ENCODE project in Barcelona
The ENCODE (Encyclopedia of DNA Elements) project aims to discover and catalog the functional regions of the human genome. It is an initiative of the US National Institutes of Health (NIH) and National Human Genome Research Institute (NHGRI) and involves research centers from around the world, including the Centre for Genomic Regulation (CRG), in Barcelona. Coordinating such geographically disperse groups is one of the greatest challenges in the project. Teleconferences—five or six weekly—that involve groups in locations as diverse as California (where it’s 6 am) and Japan (where it’s 11 pm) are complemented by personal meetings, either of the entire consortium or just of certain work groups.
From the 18th to the 20th of July 2010 one of these meetings, known as the Analysis Working Group (AWG), was held in Barcelona. The purpose of the AWG is to integrate all of the data generated by the different Encode groups. The meeting, which drew some 60 researchers, was very fruitful and enabled the different groups to communicate their main findings from the project, which will be published in an article that should be completed before the end of the year. The Barcelona ENCODE meeting was unique in that it was the first and only meeting held outside of the USA in the seven years since the project began (the pilot phase was launched in 2003).
The ENCODE project is one of the most important research initiatives of the post-genomic era. The recent ENCODE meeting held in Barcelona, hosted by Biocat’s International Center for Scientific Debate (ICSD), reflects Catalonia’s growing reputation in genomics and in bioinformatics. The growing importance of our country as a major player in these disciplines partially stems from the efforts of Catalan society, which, through its political representatives, has implemented winning policies for promoting science and technology.
Our country’s unfortunate history has impeded us from standing side by side with the nations —of all sizes— that, thanks to their efforts, have pioneered the scientific and technological advances that, in theory, provide the world with greater wellbeing. Nonetheless, for the first time ever, we have the chance to turn this situation around, but this will only be possible if we reinforce the efforts that we, as a society, have only just begun.
We recommend these videos
Related news: Scientists describe map for human genome (6/9/2012)