A Look into Ocular Diseases: The Pivotal Role of Omics Sciences in Ophthalmology Research

• Published in: ACS measurement science au Vol. 4; no. 3; pp. 247 - 259
• Main Authors: Fucito, Maurine, Spedicato, Matteo, Felletti, Simona, Yu, Angeli Christy, Busin, Massimo, Pasti, Luisa, Franchina, Flavio A., Cavazzini, Alberto, De Luca, Chiara, Catani, Martina
• Format: Journal Article
• Language: English
• Published: United States American Chemical Society 19-06-2024
• Subjects: Review; omics science; proteomics; metabolomics; liquid chromatography; mass spectrometry; ophthalmology; ocular disease; lipidomics
• ISSN: 2694-250X; 2694-250X
• DOI: 10.1021/acsmeasuresciau.3c00067

Precision medicine is a new medical approach which considers both population characteristics and individual variability to provide customized healthcare. The transition from traditional reactive medicine to personalized medicine is based on a biomarker-driven process and a deep knowledge of biological mechanisms according to which the development of diseases occurs. In this context, the advancements in high-throughput omics technologies represent a unique opportunity to discover novel biomarkers and to provide an unbiased picture of the biological system. One of the medical fields in which omics science has started to be recently applied is that of ophthalmology. Ocular diseases are very common, and some of them could be highly disabling, thus leading to vision loss and blindness. The pathogenic mechanism of most ocular diseases may be dependent on various genetic and environmental factors, whose effect has not been yet completely understood. In this context, large-scale omics approaches are fundamental to have a comprehensive evaluation of the whole system and represent an essential tool for the development of novel therapies. This Review summarizes the recent advancements in omics science applied to ophthalmology in the last ten years, in particular by focusing on proteomics, metabolomics and lipidomics applications from an analytical perspective. The role of high-efficiency separation techniques coupled to (high-resolution) mass spectrometry ((HR)­MS) is also discussed, as well as the impact of sampling, sample preparation and data analysis as integrating parts of the analytical workflow.