STRUCTURING A NEW METABOLOMICS AND PROTEOMICS LABORATORY FOR IMPROVED TRANSFUSION: A FRAMEWORK FOR RESEARCH IN PURSUIT OF QUALITY OF LIFE AND PRECISION TREATMENT FOR SICKLE CELL DISEASE PATIENTS

Abstract

Aims: The establishment of a multi-user laboratory for metabolomics, proteomics, and lipidomics at the university aims to improve the quality of life for patients with sickle cell disease by enhancing transfusion practices. The primary objective is to utilize these advanced technologies to identify biomarkers that can guide the personalization of transfusions, reducing complications and optimizing treatments. Materials and methods: The new laboratory is equipped with state-of-the-art technologies, including mass spectrometry and high-performance liquid chromatography. It features a structured biobank with stored samples from a large cohort of sickle cell disease participants, collected before and after transfusions for analysis. This setup allows for various analyses, particularly in the search for biomarkers for sickle cell disease. Metabolomics and proteomics are applied to detect changes in metabolic and protein profiles, while lipidomics identifies alterations in plasma lipids. The methodology includes comparing the obtained data with clinical parameters of the patients, aiming to correlate biochemical changes with clinical outcomes of transfusions. Results: Preliminary results from pilot projects conducted in the newly implemented laboratory indicate that metabolomics can reveal significant alterations in the metabolic profiles of patients with sickle cell disease, identifying biomarkers that can predict adverse reactions to transfusions and complications of the disease. Proteomic analysis highlights specific proteins that change in response to transfusions, providing insights into treatment efficacy and potential new therapeutic targets. Lipidomics contributes to understanding changes in lipids that may impact the cardiovascular health of patients. Discussion: The results obtained so far suggest that integrating metabolomics, proteomics, and lipidomics in the context of transfusions can offer a more personalized and effective approach to treating patients with sickle cell disease. The identification of specific biomarkers allows for adjusting transfusions according to the individual needs of patients, potentially reducing complications and improving clinical outcomes. Additionally, the laboratory serves as a platform for future research that can explore new aspects of sickle cell disease biology and transfusions. Conclusion: The structuring of this new laboratory represents a significant advancement for research in the quest to improve the quality of life for patients with sickle cell disease. Metabolomic, proteomic, and lipidomic technologies not only enable a deeper understanding of transfusion responses but also pave the way for treatment personalization. These advances highlight the importance of technological infrastructure in clinical practice and research, evidencing the positive impact on the health of patients with sickle cell disease. Furthermore, this infrastructure will support researchers at the university and other institutions.