On February 28, on the occasion of the World Day of Rare Diseases, the institute of sanitary research INCLIVA gathered the Translational Research Alliance of Rare Diseases of the Valencian Community in the faculty of medicine of the University of Valencia. In representation of the research that is being carried out of the Limb-girdle Muscular Dystrophy 1F (LGMD1F), the director of the Translational Genomics Laboratory of the University of Valencia, Ruben Artero Allepuz, and the predoctoral student Águeda Blázquez Bernal attended the event.
The event, held for the third year, was characterized as a day demanding the greater visibility, information and research of rare diseases. It was an especially motivating act after listening to several testimonies of people affected by various infrequent diseases, whose quality of life has been able to improve thanks to the advances made in research. In addition, the vital importance of a full collaboration was emphasized, not only of the associations of affected and research groups, but also of public health.
As a research group on rare diseases, the Translational Genomics laboratory wanted to participate in this event by presenting a poster about the LGMD1F model that they have developed in Drosophila melanogaster. The objective was to give voice and vision to this ultra rare disease that affects a family residing in different parts of Spain and even in Italy, with a large nucleus in people of the Valencian Community. In this way, a small grain of sand could be contributed in the dissemination of the LGMD1F.