The NAGENcol project, led by Dr. Ander Ernaga and Dr. Juan Pablo Martínez de Esteban, was fundamentally aimed at personalizing the management of patients with familial hypercholesterolemia through the use of whole genome sequencing (WGS) data and clinical data routinely collected in healthcare practice within the public health network of Navarra.
Familial hypercholesterolemia, with an estimated prevalence of 1 in 250 people, is a major global health problem that increases the risk of developing cardiovascular disease. Without treatment, these individuals see their life expectancy shortened by an average of 25 years.
507 whole genomes were sequenced from individuals clinically diagnosed with familial hypercholesterolemia. The results showed that two out of every three participants had an identifiable genetic cause, whether monogenic or polygenic.
Additionally, the project identified protein biomarkers that help predict cardiovascular risk and response to treatments. Using artificial intelligence and data analysis, predictive models were designed to improve the detection and management of this disease in the public health network.
The consortium was formed by Navarrabiomed, the University Hospital of Navarra (HUN), Nasertic and Tracasa, with support from the Government of Navarra.