From Data to Diagnostics: Innovative Bioinformatics Strategies for Diagnosing Rare Genetic Diseases

Rare genetic disorders affect more than 400 million people worldwide. Understanding their precise causes is crucial for improving medical treatments. Currently, disease-causing genetic variants are identified in about half of these patients through genome-wide sequencing analyses. A key goal of the Solve-RD project, a major European initiative for rare diseases (RD) to which this doctoral research belongs, is to increase diagnostic success. By centralizing and reanalyzing genetic datasets and collaborating intensively with clinical experts across Europe, disease-causing variants were identified in more than 700 RD families. Additionally, the development of a new method to detect hidden genetic variants and the analysis of datasets generated using long-read sequencing significantly contributed to diagnosing previously undiagnosed RD families. This work will continue as part of an even larger European RD initiative, the European Rare Diseases Research Alliance (Erdera).