Undiagnosed Rare Diseases of Catalonia (PERIS 2016-2020)

This URDCat Project aims to develop a model of health care directed to patients affected by non-Diagnosed Neurological Rare Diseases, in order to use the knowledge derived from the omic technologies, that allows to integrate clinical sciences with the capability for study and analyze the information, in an interdisciplinary collaboration model that allows to address the continuous knowledge that flows from the sequencing to the clinical decision-making process.

Specific objectives

  • • To exploit the diagnostic capacity of genomics in RD area.
  • • To implement a data analysis and interpretation platform (RDCat) in clinical practice that allows having a record of patients affected by RD.
  • • To standardize the processes of analysis and integration of clinical and genomic data.
  • • To identify the genetic variants responsible for the disease in patients with non-diagnosed RD (nDRD).
  • • To move forward in the incorporation of genomic data as a basis for personalized Medicine of the RD.
  • • To train clinician and researchers in Genomic Medicine.


Methodology and Expected Results

The tasks of the Project are performedbased on 4 work packages:

  • • Selection and characterization of patients affected by neurological nDRD(N = 700).
  • • Genomic characterization and data analysis.
  • • Development of a platform that allows dataanalysis and interpretation (RDCat).
  • • Legal, ethical and social integration of the Genomic Medicine in RD.


The Project brings together the main groups that work in RD in Catalonia in a multidisciplinary environment  that includes clinicians, geneticists, biochemists and bioinformatics. This team will review and select retrospective cases with nDRD(about  700), will generate new genomic data (for about 300 patients), mainly exomes, and will analyze and interpret the data using the RDCat platform tools. This application will allow solving a significant percentage of nDRD (around 30-40%).

More info: https://www.urdcat.cat/home

Luis Pérez-Jurado (IMIM, Spain)