The Spanish Association of Orphan and Ultra Orphan Drug Laboratories(AELMHU) has presented the VII edition of its annual awards, with which it recognizes the most outstanding contributions of institutions, patient associations and health professionals in the field of rare diseases.
The award ceremony, held this Wednesday in Madrid and hosted by journalist Jóse Ribagorda, was attended by representatives of healthcare institutions, the pharmaceutical industry, patient associations, healthcare professionals and researchers, as well as the members of the Jury who chose the winners of this seventh edition.
The president of AELMHU, Beatriz Perales, welcomed the event and thanked the award winners and the other candidates for their "years of work, effort and commitment to science and to patients with rare diseases". She also called for dialogue between all the agents in the sector to make these pathologies a "priority area" in healthcare policies, as set out in the Pharmaceutical Industry Strategy, with the aim of positioning Spain as "a European benchmark in treatments for rare diseases, something that will not only benefit patients, but will also drive scientific progress, the generation of quality employment and sustainable growth for the whole country".
During the inauguration, Raquel Yotti, PERTE Commissioner for Vanguard Health, recalled the importance of addressing the unmet needs of people with rare diseases, since "delays in diagnosis have very profound implications for each of these patients." He also thanked AELMHU for its involvement with PERTE and with each of its strategic priorities: "We want, through science and innovation, barriers to be reduced and hopes to become realities".
At the ceremony, Dr. María Luz Couce Pico Dr. María Luz Couce Picoscientific director of the Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), received the AELMHU 2025 honorary award from the Board of Directors of the association and the president of the Spanish Federation of Rare Diseases(FEDER), Juan Carrión.
In her thank-you speech, Dr. Couce stressed the importance of "promoting research, innovation and access to treatments that transform the lives of those suffering from rare diseases". She also dedicated a few words to young researchers: "Believe in science, dream of transforming the natural history of rare diseases and never forget that vocation and cooperation are the true engine of progress".
The prize for the best care project on rare diseases was awarded to the Andalusian Association of Hemophilia (ASANHEMO). Andalusian Association of Hemophilia (ASANHEMO)for its "Comprehensive care and rehabilitation program for people with hemophilia and congenital coagulopathies in Andalusia (PIAH)". Moisés González, vice-president of ASANHEMO, and Matilde Mora, the association's social worker, emphasized that this recognition is "a validation of a way of understanding healthcare that does not wait for the patient to go to the hospital, but goes out to meet them". "This award will encourage us to reach out to those who still need us. And it is a demonstration that healthcare with a soul works," said Matilde Mora.
Dr. Pascual Sanz Bigorra, Research Professor of the Spanish National Research Council (CSIC) at the Nutrient Signaling Unit of the Institute of Biomedicine of Valencia (IBV), received the award for the best professional research career in the field of rare diseases. Dr. Sanz has claimed the importance of continuing to focus on research into rare and ultra-rare pathologies such as Lafora disease, an ultra-rare form of progressive myoclonic epilepsy in which his research group specializes.
Carolina Puente, president of the Association of People with Achondroplasia and other Skeletal Dysplasias in Spain (ADEE), and its treasurer, Sonia Sestelo, have collected the award for the best dissemination and/or awareness-raising project on rare diseases for "Los Bufones de Velázquez", an audiovisual campaign that reinterprets the portraits of buffoons painted by Diego Velázquez in the 17th century. "Our campaign wanted to show how, although many centuries have passed, people with achondroplasia and other skeletal dysplasias still continue to carry certain prejudices and a social burden that is not at all fair," explained the president of ADEE after collecting the award.
Finally, Dr. Patricia Smeyers Durá, a specialist in Neurology and Clinical Neurophysiology at the Hospital Universitario y Politécnico La Fe in Valencia, was awarded the prize for the best communication, dissemination and/or awareness-raising work on rare diseases. The doctor has a project of children's stories about epilepsy, in which with a close and informative language helps to destigmatize the vision of this disease among society. In her speech, she emphasized the importance of incorporating the children's perspective on rare diseases: "Only from children's innocence can we create and grow".
The gala was closed by Contrabandeandoa musical group that mixes typical Latin American folk music with current sounds, and which has several members with family members affected by rare diseases. In their performance they interpreted 'Amor', a song dedicated to families who, like them, live with these pathologies.
