The Centro Nacional de Análisis Genómico (CNAG), located at the Barcelona Science Park, has led a European study that has genetically diagnosed 506 patients with a rare disease. The research, which is part of the European Solve-RD project and which has been published today in the scientific journal Nature Medicine, focused on finding a genetic diagnosis for 6,004 families with rare diseases, who did not yet have results even though they had undergone genetic testing.

Rare diseases affect less than one person in every 2,000 and the great variability of symptoms that can occur make obtaining an accurate diagnosis a long and uncertain process for families. Nevertheless, with more than 7,000 rare diseases currently identified, it is expected that approximately one in 20 people will suffer from one of them during their lifetime. Given that 70% of rare diseases are genetic in origin, the European funding project Solve-RD (Solving the unsolved rare diseases) started seven years ago with the aim of finding a diagnosis for 12,000 families suffering from a rare disease.

Solve-RD researchers focused on identifying possible changes in the genetics of the patients that could explain the cause of their condition. This was a highly complex objective, especially considering that these families had already undergone genetic testing in the past without any results. The 506 patients, who had been waiting more than five years for answers, have received a genetic diagnosis thanks to the systematic reanalysis of their clinical and genetic data and the use of the RD-Connect GPAP platform.

The Bioinformatics Unit of the CNAG, a world leader in genetic research in rare diseases directed by Dr. Sergi Beltran, will coordinate this European effort in which data analysis and processing will be carried out to help find a diagnosis for these families, as well as adapting the RD-Connect GPAP platform for the project. This genetic analysis platform combines genetic and clinical data from more than 30,000 people with rare diseases (patients and their families), facilitating the identification of the genetic causes of their conditions.

To achieve this great challenge, 37 research centers and hospitals from 12 European countries and Canada joined forces to collaborate in the Solve-RD project, coordinated by the University of Tübingen. One of the main objectives was the complete reanalysis of patient and family data. This data collection and reanalysis task was led by the CNAG, together with the Radboud University Medical Center (Netherlands) and the University of Tübingen (Germany).

The families included in this study come from four of the 24 European Reference Networks (ERN), communities that include medical care centers specializing in minority diseases, and from the Spanish Undiagnosed Diseases Program. These families suffer from a wide variety of rare diseases, such as rare neurological disorders, malformation syndromes, severe intellectual disabilities, rare neuromuscular diseases and hereditary cancers.

» Reference article: Laurie S, Steyaert W, de Boer E, et al. Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. Nat Med. Published online January 17, 2025. doi: 10.1038/s41591-024-03420-w

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