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The XV CIBERER Conference "Research is Progress", held yesterday with the participation of FEDER, was the Central Event of Rare Disease Day in Aragon.
During the meeting, the value of collaboration between the Administration and patient associations for the development of PAIPERA (Comprehensive Care Plan for people with rare diseases in Aragon) was highlighted.
Patient organizations and research staff have presented various collaborative initiatives at the XV Conference "Research is Progress", organized by the rare diseases area of CIBER (CIBERER) with the participation of the Spanish Federation of Rare Diseases (FEDER) as the Central Event of Rare Diseases Day in Aragon.
At the meeting, held at CaixaForum Zaragoza yesterday afternoon, the collaboration between FEDER and CIBERER in the IMPaCT-GENÓMICA program was presented. This large national infrastructure uses high-capacity tools and advanced genomic analysis strategies to try to offer genetic diagnosis to people who, with current healthcare tests, have not obtained it.
“More than 2000 patients have already participated in our program, which selects participants based on criteria of territorial equity throughout Spain. We have managed to improve the diagnostic rate by 18% of cases. We need IMPaCT-GENóMICA to continue in order to provide diagnostic answers to our patients,” emphasized Pablo Lapunzina, coordinator of the Rare Diseases Working Group of IMPaCT-GENóMICA.
Juan Carrión, president of FEDER, pointed out that the IMPaCT-GENÓMICA trial's continued operation is not guaranteed. "We must demand that health authorities provide IMPaCT-GENÓMICA with the necessary resources to ensure its continuity," he asserted.
Also speaking were the parents of three people who, thanks to their participation in IMPaCT-GENÓMICA, were able to identify the gene responsible for their illness and thus receive a genetic diagnosis: Matías, 3 years old; Irene, 13 years old; and Marta, 24 years old. In their moving testimonies, they emphasized the importance of naming the disease because it opens doors for research, can contribute to improving their quality of life, and makes it possible for other family members to receive genetic counseling.
The active participation of patients in CIBERER
José María Millán, scientific director of CIBERER, highlighted the initiatives to empower patients and promote their active participation in CIBERER's decision-making processes. "We have been committed for years to including the voice of patients, which is crucial for guiding research and ensuring that their specific needs are addressed," he emphasized.
Throughout the meeting, other noteworthy collaborative initiatives between CIBERER researchers and patient associations were presented. Feliciano Ramos and Juan Pie, from the Lozano Blesa Hospital in Zaragoza, along with Rosa Elba González, president of the Cornelia de Lange Association, explained their 20 years of joint collaboration, which has allowed them to reach the forefront of global research on this rare disease.
Cornelia de Lange syndrome is a genetic neurodevelopmental disorder that affects multiple organs and systems of the body, with a wide variability of clinical manifestations, and significant physical and mental disability.
The three speakers highlighted that the synergy between the association and the research team has been quite powerful in achieving progress.
Similarly, FEDER Aragón emphasized the importance of collaboration between patient associations and the Comprehensive Care Plan for People with Rare Diseases in Aragón (PAIPERA). This strategy, the roadmap for Rare Diseases in Aragón, has been promoted by the Government of Aragón and FEDER and aims to improve the quality of life of patients and their families through comprehensive care, treatment, and research.
Julio Montoya: 39 years researching mitochondrial diseases
The historical collaboration between associations and researchers in mitochondrial diseases was also presented. Mitochondrial diseases are a large group of rare diseases caused by the malfunction of mitochondria, the organelles responsible for energy production within the body's cells. They are genetic, chronic, degenerative, and highly disabling.
The presentation included Julio Montoya, researcher at the University of Zaragoza and CIBERER, María Teresa Torre, president of the Spanish Association of Mitochondrial Pathologies (AEPMI), and Javier Pérez-Mínguez, director of the Ana Carolina Díaz-Mahou Foundation (FACDM).
The speakers dedicated their presentations to reviewing Julio Montoya's research, highlighting the main milestones throughout his 39 years of research into these types of pathologies. Montoya was a pioneer in the genetic research of mitochondrial diseases in Spain, has worked very closely with affected individuals throughout this time, and has contributed to the diagnosis of more than 3500 patients.
At the end of the presentation, an emotional ceremony was held to recognize Julio Montoya for his outstanding career of collaboration with patient associations.
The second part of the event began with a speech by Ana González, mother of Pedro, who suffers from brittle bone disease. She described her daily life caring for her son since he was born 5 years ago and all the obstacles and support she has encountered along the way.
The day continued with a round table discussion on research into rare diseases in Aragon, in which Zoraida Soriano, director of knowledge production at the Aragon Institute of Health Sciences (IACS), Pilar Giraldo, president of the Spanish Foundation for the Study and Therapeutics of Gaucher Disease and other Lysosomal Diseases (FETEG), José María Soria, president of the Spanish Association of Ichthyosis (ASIC) and member of the Board of Directors of FEDER, Elena Gonzalvo, managing director of IACS, and Erika Fernández-Vizarra, researcher at the University of Zaragoza and CIBERER, participated.
The meeting concluded with the reading of the "Institutional Declaration of World Rare Disease Day 2026" by FEDER, delivered by Inmaculada Marco Marcén, president of the Spanish Association of Lymphangioleiomyomatosis (AELAM), and Jorge Palomera, president of the Aragonese Association of Phenylketonuria and Other Metabolic Disorders (ARAPKUOTM).
About CIBER
The Biomedical Research Network Centre (CIBER) is a public consortium affiliated with the Carlos III Health Institute (Ministry of Science, Innovation and Universities). Its objective is to promote research of excellence in biomedicine and health sciences carried out in the National Health System and in the Science and Technology System. Currently, CIBER has around 6 researchers, both attached and contracted, integrated into 000 research groups, without physical contiguity, belonging to more than 513 member institutions. The CIBER scientific programme is organised around 105 thematic areas of research: Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN); Diabetes and Metabolic Diseases (CIBERDEM); Pathophysiology of Obesity and Nutrition (CIBEROBN); Liver and Digestive Diseases (CIBEREHD); Rare Diseases (CIBERER); Respiratory Diseases (CIBERES); Epidemiology and Public Health (CIBERESP); Mental Health (CIBERSAM); Frailty and Healthy Aging (CIBERFES); Cardiovascular Diseases (CIBERCV), Cancer (CIBERONC), Infectious Diseases (CIBERINFEC) and Neurodegenerative Diseases (CIBERNED).
Source: CIBER.
