Periodic Reporting for period 1 - PREVENT (Precision medicine approach to rare vascular malformations to enhance understanding, diagnostics and therapy)
Période du rapport: 2023-04-01 au 2025-09-30
Vascular anomalies are rare and often severe conditions caused by genetic alterations affecting blood or lymphatic vessels. Many patients, especially children, remain undiagnosed or are misdiagnosed for years due to the lack of precise diagnostic tools. Treatment options are limited, and responses to therapy are often unpredictable. PREVENT addresses this pressing medical need by developing a new class of diagnostic technologies and decision-support tools tailored to the unique biology of vascular anomalies.
The project combines high-resolution 3D imaging, innovative molecular labelling techniques, and comprehensive genomic analyses using whole genome sequencing to better understand the genetic causes of these diseases. By examining both coding and non-coding regions of the genome, PREVENT aims to identify disease-causing variants that are missed by conventional approaches. Patient-derived cells are used to model disease mechanisms and test potential treatments, particularly in cases where no clear genetic diagnosis is available. This strategy helps personalize therapy for individuals with rare and difficult-to-treat conditions.
By focusing on vascular anomalies as a representative group of rare diseases, PREVENT demonstrates how precision medicine approaches can be applied to clinical research and practice. The project not only addresses a significant unmet medical need but also builds methodological and diagnostic frameworks that can be adapted to other complex genetic disorders in the future.
The project combines high-resolution 3D imaging, innovative molecular labelling techniques, and comprehensive genomic analyses using whole genome sequencing to better understand the genetic causes of these diseases. By examining both coding and non-coding regions of the genome, PREVENT aims to identify disease-causing variants that are missed by conventional approaches. Patient-derived cells are used to model disease mechanisms and test potential treatments, particularly in cases where no clear genetic diagnosis is available. This strategy helps personalize therapy for individuals with rare and difficult-to-treat conditions.
By focusing on vascular anomalies as a representative group of rare diseases, PREVENT demonstrates how precision medicine approaches can be applied to clinical research and practice. The project not only addresses a significant unmet medical need but also builds methodological and diagnostic frameworks that can be adapted to other complex genetic disorders in the future.
PREVENT developed an integrated platform to better understand and treat rare vascular diseases. By combining genomic analysis, innovative labelling techniques, and 3D imaging, the project established new tools for identifying disease-causing mutations and visualising molecular changes in affected tissues.
The team successfully applied these tools to study patient samples and identify disease mechanisms that are often missed by standard diagnostics. In parallel, patient-derived cells were used to test how different genetic variants respond to targeted treatments.
These advances support the development of more accurate diagnostics and personalised therapies, with the potential to improve outcomes for patients with complex and previously unsolved conditions.
The team successfully applied these tools to study patient samples and identify disease mechanisms that are often missed by standard diagnostics. In parallel, patient-derived cells were used to test how different genetic variants respond to targeted treatments.
These advances support the development of more accurate diagnostics and personalised therapies, with the potential to improve outcomes for patients with complex and previously unsolved conditions.
PREVENT has introduced a new approach to diagnosing and treating rare vascular diseases by combining high-resolution tissue imaging with advanced genomic analysis. Unlike conventional diagnostics, this platform allows for a detailed understanding of the disease at both molecular and structural levels, using intact patient tissue.
The ability to test targeted treatments on patient-derived cells represents a significant step forward toward personalised medicine, especially in complex cases without clear genetic answers. These results go beyond existing clinical standards and could help redefine diagnostic pathways for rare diseases.
To ensure long-term impact, further development is needed in areas such as clinical validation, regulatory alignment, and scale-up. Support for intellectual property, technology transfer, and access to clinical and industrial networks will be key to bringing these innovations into routine use.
The ability to test targeted treatments on patient-derived cells represents a significant step forward toward personalised medicine, especially in complex cases without clear genetic answers. These results go beyond existing clinical standards and could help redefine diagnostic pathways for rare diseases.
To ensure long-term impact, further development is needed in areas such as clinical validation, regulatory alignment, and scale-up. Support for intellectual property, technology transfer, and access to clinical and industrial networks will be key to bringing these innovations into routine use.