ISABIAL is involved in the development of an AI platform that will facilitate early diagnosis of pediatric cancer and cardiovascular diseases
A research team from the Valencian Research Institute for Artificial Intelligence (VRAIN) at the Polytechnic University of Valencia coordinates the OGGMIOS project, together with IIS La Fe, INCLIVA, ISABIAL, and the company Bionos, contributing to precision medicine through personalized treatments
Researchers Amaya Fernández and Vicente Climent, from the Cardiology Department of Alicante University General Hospital, are leading the study at ISABIAL together with the Clinical Trials Coordinator, Raquel Ajo
Alicante (10.02.23). A research team from the Valencian Research Institute for Artificial Intelligence (VRAIN) of the Polytechnic University of Valencia is carrying out the prototype of a platform that, using Artificial Intelligence (AI), will help healthcare professionals better understand the genetic characteristics of pediatric cancers and cardiovascular diseases in order to predict who is at higher risk of developing them. The platform will also support the selection of more targeted drug treatments, adapted to specific genetic alterations.
This prototype, developed within the OGGMIOS project, which began in March 2021 and concluded in October 2023, aims to position the Valencian Community as a national reference in precision genomic medicine, an approach that addresses disease prevention and diagnosis in an innovative way.
The platform has been developed by ten researchers from the Software Production Methods Research Center (PROS) at the Polytechnic University of Valencia, members of VRAIN, with the support of the Health Research Institute La Fe, the Health Research Institute of Hospital Clínico Universitario de Valencia (INCLIVA), the Foundation of the Valencian Community for the Management of the Alicante Health and Biomedical Research Institute (ISABIAL), and the company Bionos Biotech.
Intelligent information
The services provided by OGGMIOS include querying relevant genomic data for diseases, identifying relevant genetic variants, loading these variants and information into a database, and exploiting this data, making it possible to generate a clinical report.
The OGGMIOS project aims to advance the integration of genomics into clinical practice. To this end, healthcare professionals from IIS La Fe, INCLIVA, and ISABIAL enter patients’ clinical and biological data into the platform, with prior informed consent, while Bionos carries out the sequencing.
OGGMIOS is designed to manage the continuous integration of data through a sustainable strategy that allows researchers to study and develop algorithms capable of accurately identifying genomic variations, with the aim of detecting, classifying, and properly interpreting them using Explainable Artificial Intelligence (XAI) techniques.
“With this approach, we aim to begin understanding the genomic code by facing an enormous challenge: decoding the language of life. Identifying and interpreting the genetic cause behind cancer or a familial heart condition can be seen as correcting ‘software errors’ in the human body, which could even be fixed when gene therapy strategies allow it. This enables progress toward precision medicine with capabilities that until now had not been possible,” explained Óscar Pastor, principal investigator at the UPV’s VRAIN institute and lead researcher of the project.
Behind the OGGMIOS platform lies an intelligent information system based on AI techniques, which is continuously updated as new information is received and processed.
The greater the amount of information available, the more useful it becomes, particularly from the perspective of Explainable Artificial Intelligence (XAI), which provides the necessary tools to understand the origin of the data and support informed clinical decision‑making.
The OGGMIOS project, funded by the Valencian Innovation Agency (AVI) and linked to the previous national research project Delfos, is aligned with the Health Horizon Europe Work Programme 2023–2024. This programme aims to establish a European health system in which all Member States work together to improve prevention, diagnosis, treatment, and quality of life for different diseases, with a particular focus on genetically based conditions such as pediatric cancer and familial cardiopathies.
In this context, the research team is working on OGGMIOS with the intention that this project will serve as the foundation for more ambitious initiatives at national, European, and international levels.
As Óscar Pastor points out, “the human genome is a vast field to work in, but if we start in a focused way at a local level, addressing specific diseases and working with clearly defined patient groups, we move in the right direction toward achieving our most ambitious goal: decoding the Language of Life”.
About VRAIN
The Valencian University Institute for Artificial Intelligence Research – Valencian Research Institute for Artificial Intelligence (VRAIN) of the Polytechnic University of Valencia (UPV) is made up of eight research groups with more than 30 years of experience in different fields of Artificial Intelligence research.
The process of creating VRAIN began in 2019 as a result of the integration of six research groups. In 2020, it merged with the Software Production Methods Research Center (PROS), and in 2021 it was officially established as a University Research Institute with approval from the Valencian Regional Government.
Currently, VRAIN has 130 researchers distributed across nine research areas. These areas underpin its research activity and allow its developments to be applied across a wide range of strategic sectors, including healthcare, mobility, earth sciences, smart cities, education, social networks, agriculture, industry, privacy and security, autonomous robotics, services and energy, and environmental sustainability, among others.
These activities have been funded through more than 128 projects obtained via competitive funding, mainly from the European Union, as well as from the National Research Plan, the Valencian Research Plan, and Technology Transfer Projects.
Author: José Antonio Más Cayuelas
