Dr. Carmen Ayuso García and the nurse-educator Pedro José Soriano, the Red ÚNICAS, promoted by the Interterritorial Council of the Spanish National Health System, and ACROFAST, as well as the campaign “Nica’s Journey” are the highlights of the 8th edition of the AELMHU Awards, which recognize the work of professionals, researchers, projects, and organizations that contribute to advancing knowledge of rare diseases, improving patient care, and raising public awareness of these conditions. These awards are presented annually by the Spanish Association of Orphan and Ultra-Orphan Drug Laboratories (AELMHU).
“The projects and professionals recognized in this edition reflect some of the major challenges we face in the field of rare diseases: improving diagnosis and care, advancing research, and ensuring that knowledge reaches patients and society. But they also highlight something fundamental: that behind every advance there are professionals, researchers, patients, and organizations working tirelessly to change a reality that still poses many challenges,” said Beatriz Perales, president of AELMHU.
An independent, external jury—composed of renowned professionals in the fields of rare disease research, healthcare, and communications—was tasked with evaluating the main categories and selecting the winners.
Dr. Carmen Ayuso García has been honored with the award for outstanding career achievements in research for her decades-long contribution to the study of rare diseases, both through genetic research and through the coordination of national and international projects. Dr. Ayuso is the head of the genetics department at the Jiménez Díaz Foundation University Hospital, scientific director of the Jiménez Díaz Foundation Health Research Institute (IIS-FJD), and co-coordinator of IMPaCT Genomics at the Carlos III Health Institute. The award was granted in recognition of her numerous scientific publications on rare diseases and her collaboration on various national and international research projects focused on these conditions.
For his part, nurse Pedro José Soriano Martín has been recognized in the category of best work in communication, outreach, and/or awareness-raising regarding rare diseases for his track record in health outreach through digital media and social media.
The award for the best care project on rare diseases went to “ACROFAST: A New Personalized Medicine Care Model for Patients with Acromegaly,” a multicenter project led by endocrinologists and researchers specializing in acromegaly, with the goal of implementing a personalized medicine care model for this rare disease, which is highly complex clinically and has a significant impact on quality of life.
And finally, the “El viaje de Nica” campaign, launched by the Sant Joan de Déu Barcelona Hospital to benefit the ÚNICAS project, has been recognized for its efforts to raise awareness about delayed diagnosis of rare diseases with the award for the best project promoting awareness and/or education about rare diseases. The initiative has raised 139,236 euros to facilitate access to advanced genomic diagnosis.
As an additional recognition, AELMHU members have awarded the Honorary Prize to the ÚNICAS Network—promoted by the Interterritorial Council of the National Health System—for its contribution to a new model of care for people with rare diseases, based on coordination among 30 reference centers, healthcare professionals, researchers, and patient associations. This model helps reduce regional disparities, improve access to diagnosis, and promote more coordinated and specialized care for patients.
“At AELMHU, we want to help raise awareness of and recognize these projects and create opportunities to share them, because our commitment to rare diseases goes beyond these awards and is part of the work we do throughout the year. In this sense, the AELMHU awards are an opportunity to pause, acknowledge what is being done well, and encourage those who continue working to ensure that these advances reach the people who need them,” said Beatriz Perales.
A panel of experts in the field of rare diseases from the healthcare sector
For this edition, the AELMHU Awards Jury was composed of 16 highly respected professionals from various fields related to health:
- Mr. Jesús Aguilar, president of the General Council of Official Colleges of Pharmacists;
- Mr. Diego Ayuso, program director and head of the Nursing Research Institute of the General Council of Nursing of Spain;
- Ms. Eva Bermejo, director of the Rare Diseases Research Institute at the Carlos III Health Institute;
- Ms. Celia García, Director General of Humanization, Patient Care, and Patient Safety at the Department of Health of the Community of Madrid;
- Mr. Jorge Francisco Gómez, coordinator of the Rare Diseases Group of the Spanish Society of Internal Medicine (SEMI);
- Mr. Javier Granda Revilla, vice president of the Spanish Association of Health Journalists (ANIS);
- Mr. Vicente Martín, a member of the board of directors of the Spanish Society of Primary Care Physicians (SEMERGEN);
- Ms. Cecilia Martínez, president of the Spanish Society of Hospital Pharmacy (SEFH);
- Mr. Jorge Mestre, health economist;
- Mr. José María Millán, scientific director of the Biomedical Research Network Center for Rare Diseases (CIBERER);
- Ms. Tránsito Olay, Ph.D. in Pharmacy and an expert in research and development of orphan drugs;
- Mr. Francesc Palau, pediatrician and medical geneticist. Distinguished Researcher, Sant Joan de Déu Hospital and SJD Research Institute;
- Ms. Belén Pérez, president of the Spanish Association of Human Genetics (AEGH);
- Ms. Raquel Sánchez, an attorney specializing in health law;
- Mr. José Soto, president of the Spanish Society of Health Executives (SEDISA);
- Ms. Néboa Zozaya, president of the Health Economics Association (AES).
Also serving on the board is the executive director of AELMHU, Ms. Marian Corral, who has a voice but no vote.
You can find all the information about the awards here.