The Valencian Community is significantly expanding its research and clinical capabilities for rare diseases, with 84 active research projects and a network of over 250 dedicated investigators, according to health officials.
This investment in research is intended to accelerate early diagnosis, improve treatment options, and enhance the quality of life for patients and their families affected by these conditions. Rare diseases often present diagnostic challenges and limited treatment pathways, making focused research crucial for progress.
The commitment was highlighted on Friday, February 27, 2026, by Marciano Gómez, the region’s Minister of Health, during the closing ceremony of the 10th Translational Research Alliance in Rare Diseases conference, held at the Príncipe Felipe Research Center. The event brought together numerous experts in both scientific and clinical fields.
Gómez emphasized that “research is an essential pillar for advancing the early diagnosis of these pathologies, improving treatments every day, and achieving the best possible quality of life for patients and their families.”
Over the past several years, the Valencian Community has established a robust scientific and healthcare ecosystem, becoming a leading center for applied research in rare diseases through the Translational Research Alliance. This alliance connects scientific institutions and patient advocacy groups to develop practical solutions.
Recognizing the importance of early detection, the Ministry of Health is also prioritizing professional training. Currently, eleven specialized training activities are underway, including master’s programs and EVES courses, to equip healthcare professionals with the necessary knowledge to identify rare diseases promptly. “This proves important that professionals acquire the necessary knowledge to favor an early detection of rare diseases, since they are the ones who perform day to day with the patients,” Gómez stated.
Three Multidisciplinary Rare Disease Units Planned
To ensure comprehensive care for patients with rare diseases and Amyotrophic Lateral Sclerosis (ALS), the Ministry of Health is finalizing plans to launch three multidisciplinary units. These units will be located at La Fe Hospital, Castellón General Hospital, and Doctor Balmis Hospital, and will consolidate specialized care in a single location.
Officials anticipate these units will be operational before the summer and represent a significant improvement in patient care. “We are finalizing the procedures so that these three units are available before the summer, as they will represent a qualitative leap at the care level for patients with rare diseases,” Gómez explained. The centralized approach aims to streamline healthcare delivery, improve coordination among specialists, and reduce unnecessary travel for patients.
Centralizing care will facilitate faster diagnoses, reduce patient travel, and provide early psychological and physiotherapy support, all contributing to the prevention of complications and empowering patients, caregivers, and families.
Boosting Diagnostic Capacity with €6 Million Investment
The Ministry of Health has invested €6 million in equipment to enhance the diagnosis of genetic biomarkers associated with rare diseases. Currently, six diagnostic nodes are operational at La Fe Hospital, General Doctor Balmis Hospital, General de Castellón Hospital, General de València Hospital, General de Elche Hospital, and the Clínico de València Hospital.
These biomarkers are expected to increase diagnostic capacity by 30 to 40 percent and reduce turnaround times, although also promoting a more consistent, efficient, and equitable approach to diagnosis throughout the Valencian Community.
The system now utilizes NovaSeq X Plus technology, which significantly reduces diagnostic times, minimizes clinical uncertainty, and facilitates a more precise identification of the genetic cause of the disease. This advancement supports personalized medicine, strengthens biomedical research, and positions the Valencian Community at the forefront of clinical genetics, according to Gómez. “We are making an important commitment to state-of-the-art technological equipment focused on speeding up diagnoses of rare diseases and guaranteeing greater equity throughout the healthcare system,” he said.
the Valencian Community’s neonatal screening program, managed by the Directorate General of Public Health, currently diagnoses over 40 diseases.
Over 8,200 Individuals Diagnosed
According to the latest data from the Valencian Community’s Rare Disease Information System, 8,296 individuals have been diagnosed with a rare disease in the region. Of these, 53.7 percent are women, and 46.3 percent are men, with a median age of 46 and 36 years, respectively. These individuals have been diagnosed with 550 distinct rare diseases.
Forty-one of these 550 diseases are systematically monitored according to the criteria of the State Registry of Rare Diseases. The most prevalent conditions include cystic fibrosis in men and primary biliary cirrhosis in women. Six additional diseases – sickle cell anemia, Pompe disease, bullous epidermolysis, mucopolysaccharidosis type 2, myasthenia gravis, and type I tyrosinemia – were added to the monitoring program in 2025. The community also systematically monitors Rett syndrome and Turner syndrome, even though they are not included in the state registry.
Of the remaining diseases not systematically monitored, 78 percent are congenital anomalies, musculoskeletal diseases, hematological pathologies, and immunological disorders.
