16.08.2016

Diagnosis campaign for people with rare and less frequent diseases

The Ministry finances a public-private consortium analysing free of charge the genome in patients with a tendency towards this condition. These 100 Exomes, is an initiative seeking to create scientific & medical awareness in the treatment of illnesses that affect 3.2 million people in Argentina.

Diagnosis campaign for people with rare and less frequent diseases

Adrián Turjanski. Photo: Courtesy of Exactas-Comunicación.

Scleroderma, thalassemia major, ovarian cysts, congenital insulin overfeeding: are some of the rare and less frequent diseases that affect 3.2 million people in Argentina.

“As a researcher, what I want is to have all our local developments impacting on society as soon as possible. On that path, a place where genomics and bioinformatics can make a difference in these rare and less frequent diseases, "said Turjanski.

According to Federación Argentina de Enfermedades Poco Frecuentes (FADEPOF) – (Federation of Rare and Less Frequent Diseases), this is how every 2000 inhabitants are classified. Most of these conditions have an origin that is genetic, chronic, and degenerative which can produce some kind of disability. In some cases, without proper diagnosis and treatment, they may even risk the lives of patients.

 “There is a group of rare and less frequent diseases that are heriditary. What does this mean? A boy who was born with this mutation will eventually develops the disease, "said Adrian Turjanski chemical, bio-informatics specialist and independent researcher at the National Council of Scientific and Technical Research (CONICET).

In this context and in order to make the corresponding technology transfer to raise awareness and engage the scientific and medical community in the research and treatment of these diseases, Turjanski formed a public-private consortium to make progress in this area, with support of the Ministry Science, which invested $ 2.6 million in the project.

Thus, together with the company Bitgenia we carry out la iniciativa 100 Exomas (the initiative 100 exomes), which offers patients and health professionals the latest scientific advances that include the use of technologies of next-generation sequencing.

 "Our objective is for those children or people who can not afford a diagnosis of this type and that even today are still expensive may access them for free," said Turjanski. Up to date, Bitgenia has conducted more than 40 case studies and our aim is to complete the first 100 diagnoses among people who do not have the resources to finance them.

Currently, the call is open to health professionals who have suspected cases, based on previous medical history, requiring a molecular diagnosis. Nevertheless, Argentina has the Law 26,689, which promotes "comprehensive health care for people with rare diseases"; its implementation requires, among other things, the knowledge of doctors and patients of these new analyses.

 

 “Our objective as scientists is to get doctors involved because it is he who is in contact with the patient and have an overview of everything that is happening towards the patient," argued Turjanski, who serves as scientific advisor Bitgenia with Dr. Marcelo Martí, also as a researcher at CONICET.

From the research findings, Bitgenia is committed to working with professionals, training them in understanding and formulating diagnosis. Thus, it seeks to develop the bioinformatics capacity in the country, strategic branch not only for academic research, but also for diagnosis.

State Support

Turjanski and a group of experts from the Faculty of Natural Sciences of the University of Buenos Aires (UBA) have decided to apply to one of the financial tools offered by the Sectorial Argentine Fund (FONARSEC) under the National Agency for Science Technology and the Ministry of Science for the creation of a public-private consortium.

Bitgenia technology-based company was born through the software company Fluxit contribution and the Technology Based Companies (EMPRETECNO PAEBT) tool. It is worth recalling that this tool has the general objective in promoting the development of technology-based companies in various productive sectors and based on intensive application of knowledge.

The total amount of the project was $ 4,073,082, with a subsidy worth $ 2,636,526. Consequently, the private public consortium was formed focusing on the health sector, devoted to the development of a bioinformatics platform easy to use with the ability to analyse large volumes of data providing a solution for the analysis of the next generation sequencing.

Software

Through an own bioinformatics platform, patient data is loaded and analysed in order to determine and predict the potential impact of genetic variants. "All software is our own development and obviously has plenty of the international knowledge. Once you have the information organized is when you can use it to identify monogenic diseases and you can also see what changes may indicate predispositions. For example, if you have certain mutations that confer a risk for acquiring certain disease ", stated CONICET scientist.

“As a researcher, what I want is to have all our local developments impacting on society as soon as possible.  On that path, a place where genomics and bioinformatics can make a difference in these rare and less frequent diseases, "said Turjanski. "Choosing to do this today towards patients who can not afford it has a very clear impact:  you may change a person's life. We want to involve scientists will social awareness "Turjanski  stated.

For further information: http://apps.bitgenia.com/100exomas/

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Adrián Turjanski. Photo: Courtesy of Exactas-Comunicación.

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