The UdL develops an application to estimate genetic risk in common diseases

The Human Genetics research team at the University of Lleida (UdL) and the Lleida Biomedical Research Institute (IRBLleida) has developed a bioinformatics tool to estimate the genetic risk of suffering from common diseases such as diabetes, heart attacks or cancer.

Oliver Thansan
Oliver Thansan
04 March 2024 Monday 22:00
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The UdL develops an application to estimate genetic risk in common diseases

The Human Genetics research team at the University of Lleida (UdL) and the Lleida Biomedical Research Institute (IRBLleida) has developed a bioinformatics tool to estimate the genetic risk of suffering from common diseases such as diabetes, heart attacks or cancer.

The professor who led the project, Joan Fibla, explains that the objective is to offer researchers around the world the possibility of seeing what genetic factors exist in their population and compare them with the risks calculated for 75 human populations.

The example that can be evaluated in the application is that of the population of the Pyrenees, from Garrotxa to Pallars, for which more than 900 genetic samples have been collected that define a "native population" profile.

Fibla explained that the computer tool was born from the information available to researchers worldwide on the genetic factors related to various diseases.

This allows them to "genetically characterize" a population, that is, identify those factors that a certain group presents genetically and which of them correspond to factors associated with specific diseases. By combining these two pieces of information, it is possible to estimate the risk that a population will develop common diseases such as diabetes or some cancers.

This conjunction of the genetic data of a population and the information related to the association of diseases has been implemented by Lleida researchers in a web application in such a way that when a researcher from anywhere in the world consults it based on the genetic information of your population, you can enter your data into the application, and it will tell you what risk you have of suffering, genetically speaking, from certain diseases.

Information on more than 10,000 characteristics is incorporated into the web; some are diseases but others have to do with genetic factors such as cholesterol or creatinine levels, among others. Therefore, Fibla points out that some are measures, but other diseases such as diabetes or certain cancers.

According to Fibla, the advantage that this tool offers is that the researcher can see what genetic factors exist in their population and compare them with 75 world populations for which genetic information is available and thus have a comparison and see if their population It has more or less risk. The website is designed for researchers or personnel dedicated to the field of public health and seeks to have repercussions to establish common strategies when combating certain diseases.

The example that the researcher can evaluate in the application developed in Lleida is that of the population of the Pyrenees. The project began in 2010 with the first collection of samples and in ten years more than 900 have been collected in the regions ranging from Garrotxa to Pallars Sobirà.

Those people who have deep roots in the Pyrenees, with paternal and maternal grandparents born in the area, were selected. One of the conclusions drawn by the researchers is that geography has had a determining role in the profile of the samples.

Thus, it has been proven that the limits established by the bishoprics "perfectly define" the genetic profile of the populations of the Pyrenees because in some way, these limits have historically established the marital relationships of its inhabitants.