The Cardiovascular Genetics research group of the Girona Biomedical Research Institute (IDIBGI) and the Trueta Hospital (GenCardio) has received the Award for Research with Impact in the field of the Catalan Institute of Health (ICS) 2023. The research group has been awarded for the impact of its research on hereditary sudden cardiac death in young people, where they have been able to describe several of the responsible genes and launch strategic prevention projects in Catalonia. This research group is led by Dr. Ramon Brugada, who is also head of the Cardiology Service at the Josep Trueta and Santa Caterina Hospitals.
This award, which was presented today at the ICS Research Day, rewards those research groups that have made a significant contribution to the impact of health sciences research in the ICS, making research cross borders beyond scientific publications and benefiting society.
Genetics as a diagnostic and preventive tool
The importance of the GenCardio group's research is that it allows early identification of genetic carriers at risk of sudden cardiovascular death and, thus, preventive measures can be taken in these families. This syndrome affects infants, young people and athletes suffering from previously undiagnosed hereditary cardiovascular diseases.
With more than thirty years of experience in cardiovascular genetics, the GenCardio group has pioneered the design of genetic panels for the diagnosis of inherited cardiovascular diseases and the creation of the first Cardiovascular Genetics Diagnostic Laboratory in Catalonia. The laboratory was named a reference laboratory in 2015 and performs more than 10,000 genetic studies each year. Last year it was transferred to the ICS constituting the Molecular Genomics and Personalized Medicine Unit of the Trueta Hospital.
Research beyond scientific articles
Two of the projects carried out by the GenCardio group have generated a great social impact through their results. In the Canary Islands, in a family of more than 2000 members, it was possible to identify the genetic cause responsible for the death of 34 young people in the seventeen years prior to the study. More than 200 living genetic carriers were identified. Since they have been put on medical treatment there have been no further deaths from the disease. As for Catalonia, the MOSCAT molecular autopsy project, initiated in 2012 jointly with the Institute of Legal Medicine and Forensic Sciences of Catalonia, has exceeded 1000 genetic studies and has detected a potentially responsible genetic cause in 30% of cases.
Its research has also transcended into healthcare medicine. The use of genetics has given rise to a new healthcare discipline, cardiovascular genetics, and several organizational changes such as the creation of the Cardiovascular Genetics Laboratory, or the development of Family Heart Disease Units in tertiary hospitals, as is the case of the unit at the Trueta Hospital.