Project call: Grants for Health Research and Development Projects. Basque Government Department of Health. 2025 Call

Funding body: Department of Health, Basque Government

File number: 2025111045

Principal Investigator: Guiomar Pérez de Nanclares Leal

Funding awarded: €177,664.76

Description: To develop and implement an integrated research and diagnostic support infrastructure for the precise genetic diagnosis of rare diseases within the Basque Health System, based on the systematic re-analysis of genetic variants and their functional validation. The GENIUS project is integrated into Osakidetza’s care pathways, aligned with personalised medicine and healthcare digitalisation, with the aim of reducing diagnostic uncertainty, improving equity in access to diagnosis and advancing translational research within ethical and quality frameworks.

Objetive:
1.- To develop a structured system of genetic re-analysis to improve the early and accurate diagnosis of rare diseases, addressing the interpretation of variants of uncertain significance.
2.- Integrate genetic and clinical phenotypic data, together with functional tests and other complementary evidence, to increase the robustness and reliability of diagnostic interpretation.
3.- To reduce clinical uncertainty and improve decision-making, genetic counselling and the quality of care through the application of re-analysis in real-world cases.
4.- Establish a continuous and sustainable process of diagnostic updating, aligned with care pathways and with the ethical and regulatory principles of the Basque Health System.

Expected results:
– Development of standardised protocols for the systematic re-analysis of genetic variants and for the functional validation of variants of uncertain significance (VUS).
– Improved accuracy of genetic diagnosis and genetic counselling in patients with rare diseases.
– Creation and updating of integrated databases containing genomic, clinical and functi l information, supported by advanced bioinformatics tools.
– Incorporation of clinical decision-making support tools and guidelines for the implementation of periodic re-analysis.
– Strengthening of models for interdisciplinary collaboration between laboratories, clinicians and researchers.
– Production of scientific publications and knowledge transfer to the Basque healthcare system, contributing to the sustainability and continuous improvement of care for rare diseases.