Guirao asks for more involvement of the administrations in a conference on Rare Diseases

The president of Conquistando Escalones, Abrahán Guirao, participated today in the International Day of Rare Diseases 2024 Conference organized by the Ministry of Health through the General Directorate of Public Health and the Fisabio Foundation, representing the Research Alliance Translational Rare Diseases of the Valencian Community. Guirao was in charge of the presentation “Patient associations in the process of finding a treatment”, an intervention that he took advantage of to demand greater involvement from administrations to promote research. “The work of patient associations is very good but a large part of it, including raising funds, should not fall on us. We request the collaboration of the administrations,” Guirao requested, adding that “although we are proud of everything achieved Despite all our health problems, the disease makes you worse and little by little it turns you off. The highest representative of Conquistando Escalones has also addressed the process that the entity has followed since its foundation to find a treatment or cure for Limb-girdle Muscular Dystrophy 1F/D2 and that is not based only on obtaining funds but also, Guirao has insisted on promoting communication between researchers with the aim of carrying out monitoring and coordination that avoids duplication of resources and has explained that every few months the entity promotes meetings, including an annual conference, to share the work carried out and future goals.

The person in charge of Conquistando Escalones has detailed the origin of the entity dating back to 2013 when it was discovered that the mutation that causes Limb-girdle Muscular Dystrophy 1F/D2 makes those who suffer from it immune to HIV. A circumstance that gave them visibility; It allowed us to meet more family members, even from outside Spain since there are also clinical cases in Italy; It aroused the interest of researchers and ultimately led to the creation of the association. The first steps were to coordinate the work of the researchers and begin to outline actions and events to raise funds that would allow the scientists to begin their work. A work with two fronts: on the one hand, to stop and improve the quality of life of those affected and, on the other, “we hope, whether in the short or long term, for a cure.” A work led by the University of Valencia (UV) in collaboration with other entities such as the La Fe research center, Incliva or the Carlos III Health Institute and which, after years of work, is “already on the verge of possible clinical trials and At the same time, in terms of a possible cure, the genetic mutation has already been corrected in the laboratory with gene editing,” the president of Conquistando Escalones detailed. Furthermore, in recent years, institutions from other countries have collaborated with research related to both neuromuscular diseases and HIV treatment. Guirao also explained to the attendees the history of the disease prior to the creation of the association. “My grandfather and my father ended up knowing that they suffered from dystrophy but not what type. At that time there were very few patients and hope was zero,” indicated the highest representative of Conquistado Escalones, who is part of the eighth generation of people affected by this disease.