14.11.2013

The whole genome of Argentine patients were sequenced and decoded for the first time

This is about three children suffering pervasive developmental disorder. It could generate new diagnostic tools.

The whole genome of Argentine patients were sequenced and decoded for the first time

From right to left, Marcelo Adrian Turjanski and Marcelo Kauffman during the announcement.

The Ministry of Science, Technology and Productive Innovation today announced the sequencing and decoding of the whole genome of three Argentine brothers suffering the same neurological pathology. Technology could generate new diagnostic tools for rare diseases. The communication was led by the neurologist and researcher at CONICET, Marcelo Kauffman and Adrian Turjanski, a chemist specialized in bioinformatics and researcher at CONICET.

"We believe this is the beginning of a process that will put Argentina as a leader in biomedical research at international level", said Barañao.

The sequencing and subsequent decoding would identify the genes involved in the pathology. Patients suffer pervasive developmental disorder and epilepsy and are treated by Kauffman at the Ramos Mejia Hospital.

Kauffman said that "the creation of two technology platforms was fundamental to genomics be part of medical practice in Argentina" and he added that "today only Brazil has the same capabilities in Latin America".

Meanwhile, Turjanski, who is also the director of the Bioinformatics Platform for the management and analysis of biological data, acknowledged that "it is a huge effort of the Ministry of Science to provide the physicians with new medical diagnostic tools" and he added that thanks to this kind of study "the IT becomes part of medicine".

The Minister of Science, Technology and Productive Innovation, Lino Barañao, stressed out the importance of the announcement and emphasized that "we aim to consolidate in Argentina a chain that goes from basic research, rational drug design, preclinical testing, clinical and production under international quality standards of possible therapeutic agents”. He also added that "we believe this is the beginning of a process that will put Argentina as a leader in biomedical research at international level".

The genome sequencing is a laboratory technique used to determine the exact sequence of bases in a DNA molecule. The DNA base contains the information needed by a cell to produce proteins and RNA molecules. The DNA sequence is essential for scientists studying gene function. The decoding is the processing of that information with computer techniques.

Genomics is the field of genetics that handles the mapping, sequencing and analysis of the complete genome function. A gene is a piece of DNA whose primary function is the production of specific proteins. There are approximately 20,500 and 30,000 genes in each cell, which together contain the genetic material of an organism. A researcher of the genome studies the whole DNA, the entire sequence in an organism. To study the genomics of an organism (or a person) all his/her genes and all his/her DNA should be sequenced.

The Genomics Platform, known as the "Argentine Genomic Technology Consortium" is an association formed by the Leloir Institute Foundation (IDF), the National Scientific and Technical Research (INDEAR - CONICET) and the National Institute of Agricultural Technology (INTA). This development provides services for analysis of gene expression and sequencing using the latest technology. Distributed in the three nodes above mentioned, it is responsible of the various techniques development related to the genome analysis and its transcription products, providing as service such techniques for harnessing of the science and technology community in general, both public and private. It was funded by the Ministry of Science with an investment of approximately $ 8,000,000.

The Bioinformatics Platform, known as the Argentina Bioinformatics Center is a technology platform formed by the CONICET, Agrobiotechnology Institute of Rosario (INDEAR) ,the University of Buenos Aires (FCEyN - UBA), the National University of San Martin (UNSAM), through the Biotechnology Research Institute (IIB -INTECH) and the Catholic University of Córdoba (UCC). As all technological platforms, it was created with the purpose of supporting frontier technology units and highly specialized personnel dedicated to provide products and advanced scientific and technological services, highly specialized, necessary for excellent research groups and technology companies. In this case, the platform provides bioinformatics services to public and private. Its development was made possible through a grant of $ 7,978,700.

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From right to left, Marcelo Adrian Turjanski and Marcelo Kauffman during the announcement.

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