The European Human Genetics Conference is one of the most prestigious international events for medical genetics. It was held this year in June in Glasgow, Scotland, bringing together some 5,800 geneticists from 90 countries. The LNS National Center of Genetics team was represented at the conference, as Dr Guillaume Jouret was selected to present an international translational research project.

This research work presented at the Glasgow congress, focused on the most severe forms of a very rare cardiac condition, known as hypertrophic cardiomyopathy, which is responsible for the abnormal and sometimes extreme development of the heart’s muscular wall. Some patients, carriers of genetic mutations responsible for a group of diseases known as RASopathies, have a predisposition to the premature and severe onset of hypertrophic cardiomyopathy.

This translational research project has brought together the efforts of more than ten European teams to use genetic testings to identify at an early stage patients who are most at risk of developing a severe and premature form of the disease, and who may benefit from targeted therapies in clinical trials in the coming years.