This research makes several significant contributions to the field of BrS. It employs advanced genetic sequencing techniques to develop a genetic signature to improve the accuracy and efficiency of BrS diagnosis. The identification of specific biomolecular profiles and genetic signatures enhances our understanding of the syndrome's molecular mechanisms, facilitating targeted therapies and refined risk stratification. These advancements optimize patient care by enabling personalized treatment plans and risk assessment. Overall, this research adds value by advancing diagnostic methods, providing molecular insights, optimizing patient care, and positively impacting public health outcomes in BrS.
Age > 18 years
Patients affected by Brugada Syndrome
Patients who signs the Informed Consent
None
A total of 350 patients affected by BrS coming from the same geographical area and age-sex balanced, when it's possible. The total sample includes at least 300 individuals from Sardinia, to whom pre-existing data of 100 patients will be added, already subject to the Whole Exome Sequencing (WES) at Policlinico San Donato.
Cohort
Other
Not listed
Multigenic Risk Score (MRS)
Our objective is to utilize the extensive Whole-Exome Sequencing (WES) data from our cohort to discover shared genetic mechanisms underlying BrS. We will conduct rigorous quality control and genome-wide association analyses to identify both common and rare mutations related to BrS. We aim to develop a Multigenic Risk Score (MRS) based on the cumulative findings, considering the effects of associated variants on protein and gene expression levels, and chromatin structure. The MRS seeks to refine the BrS biomarker panel and develop a robust diagnostic tool for BrS by leveraging genetics, machine learning, and translational research.
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IRCCS Policlinico S. Donato
Lead sponsor
Azienda Ospedaliero Universitaria di Sassari
Collaborator
The National Research Council, Italy
Collaborator
