Por Redaccion The Health Councilor, Alejandro Vázquez, has visited the reference areas located in the University Assistance Complex of Salamanca dedicated to the diagnosis and treatment of rare diseases, on the occasion of the World Day of these pathologies. Their prevalence is about five cases per 10,000 inhabitants but, despite being rare, there are so many different pathologies that, together, can affect a percentage of the population ranging from 3.5% to 5.9%.
February 28, 2025
Castilla y León |
Health Department
Alejandro Vázquez has visited the facilities of the human genome sequencer and has met with professionals who treat these diseases every day with a coordinated approach through the so-called Multidisciplinary Reference Teams in specialties such as Internal Medicine, Pediatrics, Clinical Analysis, Gynecology and Obstetrics, as well as geneticists and case management nurses.
With the general objective of promoting the development of a comprehensive care model that guarantees access under conditions of equity to people with rare diseases/undiagnosed and their families, to reduce morbidity and mortality and to cover the specific needs for the improvement of their quality of life, the Castilla y León Regional Government has the Comprehensive Plan for Rare Diseases of Castilla y León (PIERCYL) 2023-2027.
One of the projects included in this plan is to «promote a framework of collaboration with patient associations» and, in this regard, the Health Department held a meeting this week with representatives of the Spanish Federation of Rare Diseases (FEDER), where aspects such as the privileged position of Castilla y León in the national context by having an integral plan, the progress of cases attended to and the reduction of waiting times, or the importance of maintaining constant collaboration in the care of these groups were discussed.
This year, the celebration of World Day focuses on the individuals and their families, who are the beneficiaries of the joint efforts of the administrations and society in general. To this end, the implementation of PIERCYL in the adult field is making significant progress in healthcare organization, through the creation of Reference Healthcare Nodes (NAR) and Multidisciplinary Reference Teams (EMR), coordinated in a network to promote equity in access for adult patients with rare diseases throughout the Community.
The Health Department of Castilla y León already has four massive genome sequencers that complete the provision of Reference Healthcare Nodes, located in the hospitals of Burgos, León, Salamanca, and Valladolid, and that will cover patients throughout the Community.
This improved and more comprehensive organization has allowed, for example, the completion of about 300 complete genome studies, which can analyze millions of variants per patient, consolidating the capacities of the Community and placing it in an advantageous position.
In addition, the analysis of these studies with Artificial Intelligence has been implemented for the management of the generated Big Data, which constitutes an advance to identify the variant responsible for the disease, a fact that also contributes to the leadership of Castilla y León at the national level. In this sense, almost 500 ultra-rare diseases with a prevalence of less than one case per million have been diagnosed so far.
Pediatric Reference Unit
PIERCYL also addresses the pediatric field from the Reference Unit for the Diagnosis of Rare Diseases (DiERCyL) located in Salamanca, where 7,152 patients have been treated since its creation, of which approximately 2,000 correspond to the last year. When the unit started, patients were barely diagnosed in the early years of life, and currently 35% of them are under three years old, of which more than 50% are in their first year of life.
DiERCyL was officially inaugurated in Salamanca in 2018 and represents a regional reference service that has grown over the years in line with the needs of children who need a diagnosis. In this process, primary care and hospital pediatricians from all hospitals in Castilla y León are involved, as well as healthcare professionals from the Sacyl laboratory network, and other non-pediatric services that assess patients with dermatological or otolaryngological symptoms, among others.
Furthermore, clinical and basic research play a fundamental role in advancing the diagnosis. The first, describing new disease spectrums, diagnosing diseases with scarce information as there are few cases in the world, or describing new gene variants that have not been explored before. The second, through the Institute of Biomedical Research of Salamanca (IBSAL) and the University of Salamanca, studies the impact of genetic variants on cellular functions to achieve, through genetic engineering, the modification of laboratory cells and confirm the effects of these variants in order to try to predict their behavior in patients.
Thus, since 2022, the Rare Diseases Diagnostic Unit in Salamanca has a massive whole-genome sequencer that currently provides information on several million variants per patient, greatly increasing diagnostic possibilities. Having one of the most advanced technological resources internationally helps to consolidate the Community’s leadership in addressing these diseases, as it was the first to include it in the range of healthcare services.
Whole-genome sequencing assisted by Artificial Intelligence saves time in diagnoses because, in addition to providing more information, it analyzes regions that cannot be studied with other types of sequencing, facilitating the identification of gene variants that were previously unknown. In some cases, it has allowed, for example, the diagnosis of diseases that have spanned several generations in the same family, as well as reducing the age of diagnosis by several years.
The use of technology is crucial for patients. Early diagnosis allows measures to be taken to control the progression of the disease and improve the prognosis, reduce complications, achieve greater effectiveness in treatments, and ultimately contribute to the sustainability of the healthcare system.
In conclusion, the Castilla y León Regional Government works to meet the needs of patients with very rare diseases, providing its healthcare, management, research, and innovation capabilities from a holistic perspective.