ABOUT THE PROJECT
IMPaCT-VUScan is an initiative that aims to identify variants of unknown significance (VUS) in suspected hereditary cancers. The IMPaCT-Genómica initiative has already developed a basic platform and workflows to evaluate unsolved cases with suspected genetic diseases, including hereditary cancer cases. However, it is expected that multiple VUS will be identified in most, if not all, hereditary cancer cases that are being and will be evaluated through the IMPaCT-Genómica platform, warranting further studies to achieve the genetic diagnosis that these families need.
The objective of IMPaCT-VUScan is to implement a comprehensive functional genomics strategy within IMPaCT-Genómica, improving the resolution of unsolved cases with a suspected predisposition to cancer. The initiative will integrate -omics information and in silico support tools to prioritize VUS complemented with a functional evaluation of selected variants. Altogether, it aims to reach a definitive genetic diagnosis that families need. Furthermore, the standardized protocols and collection of genomic, functional and diagnostic data will be used to generate an AI-based tool to offer long-term support in clinical decision-making within the National Healthcare System.
MAIN RESEARCH goals
- Implementation of a comprehensive functional genomics strategy within IMPaCT-Genómica, improving the resolution of unsolved cases with a suspected predisposition to cancer.
- Integration -omics information and in silico support tools to prioritize VUS complemented with a functional evaluation of selected variants to provide definitive genetic diagnosis.
- Generation of an AI-based tool to offer long-term support in clinical decision-making in unsolved hereditary cancer cases within the National Health System.
Funding
ISCIII
NextGenerationEU
Plan de Recuperación, Transformación y Resiliencia
Contact
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