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Full Human genome sequencing for the first time in Portugal

Biocant, Coimbra University and Critical Software launched the Porgene project on 11th November

21 Nov 2011

The genome of eleven Portuguese citizens will be sequenced for the first time in Portugal, marking the launch of "Porgene". Through the study of the human genome, which saves all the information about the individual's biological constitution, it will be possible to perform a personalized medicine, which can improve people's life quality and reduce the costs of the National Health Service associated to the prevention and treatment of diseases.

The sequencing will be carried out with the technical-scientific support of Critical Software and the University of Coimbra through the Centre of Computational Physics, which manages the biggest Portuguese supercomputer. Between the genomes to be sequenced are the ones of those who head the project, Carlos Faro, Biocant´s director, Carlos Fiolhais, from the University of Coimbra, and Gonçalo Quadros, Critical Software's CEO.  

"The project intends to set the ground to the medicine of the future, in which the patient care will be guided by the most complete information at a biological level, resulting in personalized diagnosis and treatments," says Carlos Faro.  

The benefits of the Project will be available to a wide number of Portuguese citizens by entailing collaborations with several national health institutions.  

"What science can make today is impressive and this Project shows exactly that. For the first time, Portugal is keeping up with what is being done in the best research centers throughout the world. Portugal is now in the forefront in the use of genetics to defend and improve our health," says Carlos Fiolhais.  

The project is based in the scientific and technical resources of Biocant and the University of Coimbra and in the accumulated experience in critical IT systems from Critical Software, whereby access to the Genome Interpretation Database is made only by the clinician after permission from the patient. The Biomedical Law Center from the University of Coimbra will address and tackle all the legal aspects of the project.  

The genomes will be stored in a system developed for this specific purpose, in accordance with the laws in respect to personal data protection. "Trusting a computer system of this kind, which records and saves a lot of information to its appropriate subsequent medical use, is essential. Our database relies on a concept that separates completely the personal data of the biological data, ensuring the perfect anonymity of the donor as well as the ban on access by unauthorized persons," clarifies Gonçalo Quadros.  

The benefits of this project, carried out from the experience of Critical Software in security-critical computer systems, and with the scientific-technological means of Biocant and University of Coimbra, will be extended to the largest number of citizens possible, being predicted partnerships with national health units. Any query to the database will only be possible to be done by a physician, properly qualified and with the individual's informed consent. The Biomedical Law Center of the University of Coimbra will ensure the proper monitoring and legal framework.

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