Colombian won important international scientific award with research on epilepsy

Epilepsies are a group of diseases that affect millions of people on the planet and, thanks to the advances of modern science, research continues to propose and develop new treatments for patients who suffer from them.

Data from the World Health Organization (WHO), it is estimated that approximately 50 million people in the world suffer from it and in Colombia, the figure is close to 770,000 people, according to a report by the Ministry of Health in 2019.

In addition, WHO reveals that, “at least 80% of people suffering from epilepsy live in low- or middle-income countries and it is estimated that 70% of people with epilepsy could live without seizures if diagnosed and treated early, since the risk of premature death in people with epilepsy is up to three times higher than in general population”.

In the case of Colombia, according to the Ministry of Health and Social Protection, between 2015 and 2019, 767,251 people with epilepsy were identified in Colombia; the territorial entities with the highest number of cases were Bogotá, Antioquia and Valle del Cauca.

Diego Forero, PhD in Biomedical Sciences at the University of Antwerp in Belgium, professor and researcher, leader of the Faculty of Health and Sports Sciences of Areandina, won by the Board of Directors of the National Epilepsy Foundation, the prize for the best scientific research work in the context of the National Epilepsy Foundation, in the context of the National Epilepsy Award for Epilepsy 2021 for their study “Functional Genomics of Epileptogenesis in Animal Models and Humans”.

The research describes the analyses of available whole genome expression data in human patients with epilepsy and in animals such as mice, rats, zebrafish and fruit flies.

“Meta-analyses facilitate the generation of new scientific evidence with a greater number of individuals included than individual studies. Expression analyses of all genes in an organism and animal models make it easier to understand in greater depth the mechanisms associated with the biological basis of diseases,” Forero explained.

He added “the award is a national recognition of the potential of applying computational genomics to the understanding of the pathophysiology of high-impact neurological diseases, that is, how the analysis of genes and their expression help to understand in greater depth the biological causes of epilepsy.”

In the investigation they found new candidate genes and possible mechanisms that may be associated with the development of epilepsy. “This new knowledge, which is not immediately applicable to patients, is a necessary step for the future creation of new treatment, prevention and rehabilitation strategies,” said the researcher.

It is noteworthy that the current work is the first meta-analysis and convergent analysis of GWES for epileptogenesis in humans and in multiple animal models, integrating the results of several genomic studies.

“Multiple lines of evidence were integrated as genome-wide association data and known drug genes to prioritize the main candidate genes for epileptogenesis and a functional enrichment analysis was carried out. Several major candidate genes, supported by multiple lines of genomic evidence, such as GRIN1, KCNAB1, and STX1B, were identified,” they reported in the research.