Within the framework of the call for Strategic R&D Projects, and led by Navarrabiomed, it aims to identify the genetic alterations causing severe hypercholesterolemia.
 

The Department of Economic and Business Development of the Government of Navarra has financed, under the Strategic R&D projects, with 1.4 million euros the project NAGENCOL which allows advancing the knowledge of the use of genome-wide analysis technology and thus to identify the genetic alterations causing severe hypercholesterolemia and markers of response to treatments using this technique.

The General director of Industry, Energy and Strategic Projects S4, Uxue Itoiz, has visited Navarrabiomed to get to know the results of the NAGENCOL project, together with the director of the strategic projects service S4, Delia Sola; the project manager of Navarrabiomed, Jorge Marín; the researcher of the University Hospital of Navarra-Navarrabiomed, Ángel Alonso; the member of the TRACASA Instrumental R&D&i team, Pablo Vega; the NASERTIC R&D&i project manager Gorka Las Heras, as well as other members of the project development team.

This initiative is part of NAGEN, a program that aims to implement the analysis of the human genome in the public health network of Navarra. As they have explained from the Genomic Medicine Unit of Navarrabiomed, “every person contains thousands of genetic variants in their DNA, some of them being important for health. Having this information will allow clinicians to help in the diagnosis and treatment, not only of a specific disease such as familial hypercholesterolemia, but of other diseases that may develop throughout the patient's life”. Currently, NAGENCOL has completed its development phase and the objective, from now on, is to extend all its benefits to all patients with SNS-O hypercholesterolemia.

This project evidences the benefits of personalized medicine in the detection and prevention of diseases, "positioning Navarra at the forefront of these advanced therapies”. Its development, carried out over 3 years, has been implemented through a consortium in which the Miguel Servet Foundation–Navarrabiomed, the Navarra Health Service-Osasunbidea, NASERTIC and TRACASA have participated. This joining of forces highlights the importance of the triple helix of knowledge. On the one hand, with the participation of technological and knowledge centres, on the other, the economic sector with the participation of companies and, finally, the involvement of the Administration that has the ability to support sequencing thanks to the NASERTIC supercomputing centre.
 
Study results

Familial hypercholesterolemia is a major public health problem, since cholesterol is the cause of 22% of coronary events in the world and most of them could be avoided with an early diagnosis and proper treatment. The lives of untreated familial hypercholesterolemia patients are shortened by about 25 years on average and 50% of them will suffer a heart attack before the age of 55. In addition, there are approximately 1500-2500 people with this disease in Navarra, and less than 20% of them are aware of this.

NAGENCOL arises from a study of the genome in 507 patients with familial hypercholesterolemia or with LDL cholesterol levels above 190mg/dL. In 62.7% of patients it has been possible to identify a genetic alteration causing the elevation of cholesterol and in 31.1% the presence of a genetic alteration that justifies a poorer response or greater probability of side effects with the usual pharmacological treatments. It has also been possible to study which genetic variants confer a higher cardiovascular risk and therefore those patients who should have a more intensive follow-up are identified. In addition, detection has made it possible to identify affected relatives to whom early treatment can be offered to improve their prognosis.
The study has also managed to identify and characterize new (early and progression) protein biomarkers, to improve the prevention of cardiovascular diseases, one of the main causes of death in Navarra.

Once the study phase is completed, the objective is to extend all these benefits to all patients with SNS-O hypercholesterolemia. To this end, algorithms are being developed that help the clinician to more easily identify patients with hypercholesterolemia more likely to have a genetic cause, as well as others that improve the estimation of cardiovascular risk and therefore facilitate the follow-up of those at higher risk.
The project is part of the call for Strategic R&D Projects carried out annually by the Department of Economic and Business Development. This call encourages the implementation of projects with high innovative impact that are aligned with the sectors identified in the Smart Specialization Strategy (RIS4) of Navarra. Specifically, the NAGENCOL project is included in the GEMA (genomics and advanced medicine) challenge.