the training of researchers working in genomics in Uruguay through the creation of a program with South Korea.
scientific and technical advances in the sequencing and analysis of human genomes in Uruguay.
the creation of companies and laboratories that can export services in the field of genomics.
integration in the field of genomics with Latin America.
the advances of human genomic research to scientific and academic communities related to the pharmaceutical and social sector.

Mission and Vision

MateWhat is popularly known as “Uruguayan people” is a population made up of different kind of persons that have come together throughout history. We are a mixture of natives who were in our land in a pre-Hispanic era. Immigrants who came from Europe (Spanish first, Portuguese-Brazilians, Basques and Italians later) and populations from different parts of the Mediterranean that came in the early twentieth century.

In spite of what beliefs pointed out for many years the Uruguayan has between 10 to 14% of indigenous genetics and between 6 to 8% african. Our genetic nature requires a deeper study which helps us to know ourselves better and use it to our benefit especially in relation to health research. Being able to know exactly who we are makes possible the development of optimal solutions for our unique characteristics.

The genome study is an extremely interesting approach to this situation. Studies of human genomics have been scarce particularly in Latin America. This means that we do not know exactly what genetic susceptibility we have to different types of pathologies (even the most relevant ones). The data value of our genomic variability could make a substantial difference on medicine field and in the life quality of million people.

Fortunately tech advances have made possible the access to massive DNA sequencing in the last five years -plus than a thousand times more accessible- which opens a very optimistic scenario for researchers.

Some of the most interesting points about this new scenario is that the knowledge we have about certain pathologies depends on the number of analyzed cases making vital the need of extending the test in order to know in depth how they behave through the different populations and thus be able to control them and fight them with greater efficiency.

There are, however, some pathologies that do not depend directly on the number of cases studied since they are “rare diseases” that occur in a certain population. The possibilities that genome sequencing allows in this type of cases are usually very large, leading to percentages of success in the diagnosis of between 25-30%.

Since Urugenomes will be able to determine the degree of success that medicines have over people the project benefits will not only be at the medical level but also in the pharmaceutical sciences as that can help to elaborate drugs that are effectively adapted to Uruguayan profile.

To carry out this work it was very important to have available human resources which were able to analyze the complex amount of data produced by the investigations. This is the reason why the third phase of the project was to train Uruguayan researchers having the possibility of adopting this way of working constantly over time.