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ANNUAL PLAN FOR THE APPLICATION OF THE TECHNICAL RESERVE FOR INSTITUTIONAL INFRASTRUCTURE - 2023

Abstract

The Molecular Investigation Laboratory in Cardiology at Instituto Dante Pazzanese de Cardiologia (LIMC-IDPC) aims to collaborate with research linked to molecular procedures at the Institute. The purpose of the IDPC Biobank is to store biological materials from the Personalized Cardiovascular Medicine Outpatient Clinic, previously approved by the Research Ethics Committee (CEP), which accompany the Managing Committee of the IDPC Biobank analyzes each research that intends to use stored material without Biobank. The expansion of the biobank allows the development of molecular research projects in cardiology, using resources already available in the laboratory and enabling qualitative and quantitative gains in research at IDPC. In experiments to characterize genetic alterations related to cardiovascular diseases, next-generation sequencing (NGS) is the most indicated technique. The Molecular Investigation in Cardiology laboratory has a Mi-Seq sequencing platform, which allows the implementation of genetic tests to identify genes for different pathologies, including Familial Hypercholesterolemia, an autosomal dominant disease caused mainly by loss of function in the LDLR genes, APOB and PCSK9. For this, it is fundamental that the equipment is tested working, in order to exhibit the necessary performance to obtain experimental data. This will provide an adequate structure for the development of new research, and will also help in the diagnosis and personalized treatment of patients who will be treated at the IDPC outpatient clinics, since such equipment will be used to identify potential pathogenic genetic variants in clinical samples. . Due to the versatility of application of RTI, this word will be extremely important and useful to ensure the correct functioning of the new generation sequencing equipment "Mi-Seq" available in the laboratory through corrective maintenance, thus avoiding biases in the results. (AU)

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