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Identification and cross-omics validation of proteomics signals for cardiovascular related diseases with family-based approach.

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Lay summary

Rare cardiovascular diseases, although individually uncommon, collectively place significant burden on the health system. The advancement of omics technologies such as proteomics  (the study of proteins), shows potential in facilitating the integrative family-based diagnosis and research of rare diseases. Serum proteins serve as essential biomarkers providing insights into the biological processes related to a wide range of human rare diseases including cardiovascular related ones. Compared to other omics, proteomics data provides more direct information on the change of biological processes. Our study aims to understand the changes to the proteomic   profiles related to these diseases with family-based settings by using the Illumina Protein Prep data, we will identify key protein signals and functional pathways in cardiovascular related rare diseases, and exploring their association with genomic variants via the whole genome sequencing data that is available from the 100,000 Genomes Project.  The findings will help identify and prioritize disease-causing variants and provide evidence for the value of proteomics in rare cardiovascular disease diagnosis and research.

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