Following the recommendations of the International Rare Diseases Research Consortium (IRDiRC), the main objective of the SpainUDP Program is to provide a diagnosis to individuals who, after years of searching, have still not been able to identify their disease. The program is designed to address complex cases where conventional clinical pathways have failed to provide a clear answer.
To achieve this, SpainUDP employs cutting-edge technologies in the fields of genetics and genomics. Among the primary tools used is next-generation sequencing, particularly Whole Exome Sequencing (WES), which allows for in-depth analysis of the coding regions of DNA, where most disease-related variants are concentrated.
In cases where exome sequencing is inconclusive, the possibility of conducting a more extensive analysis through Whole Genome Sequencing (WGS) is considered, along with transcriptomics studies (RNA-Seq) to analyze gene expression patterns. This combination of technologies enables the exploration of the molecular origin of diseases from different perspectives, thereby increasing the chances of reaching a diagnosis.
SpainUDP thus positions itself as an advanced resource for undiagnosed individuals, integrating research, innovation, and international collaboration to serve patients who, until now, have not had answers.