Aug 2026· International Journal of Molecular Medicine· Vol 58, pp. 1-35· 0 citations· 233 references
Medicine
TL;DR
Key findings from multi-omics studies in uveitis are summarized, the sample sources and analytical strategies employed are described, and the transformative potential of integrative omics in precision ophthalmology is highlighted.
Abstract
Uveitis encompasses a group of intraocular inflammatory disorders that notably contribute to global visual morbidity. Persistent challenges include early diagnosis, accurate subtype classification and individualized treatment. Recent advances in omics technologies, including genomics, epigenetics, transcriptomics, single-cell omics, proteomics, metabolomics, lipidomics and microbiome profiling, have reshaped the current understanding of uveitis pathogenesis by uncovering disease-associated genetic variants, dynamic transcriptional landscapes, inflammatory proteins, metabolic alterations, and microbe-host interactions. Notably, single-cell RNA sequencing offers unprecedented insights into retinal immune cell heterogeneity and functional states, while radiomics is emerging as a valuable platform for imaging biomarkers. The present review summarizes key findings from multi-omics studies in uveitis, described the sample sources and analytical strategies employed, and highlighted the transformative potential of integrative omics in precision ophthalmology. Multi-omics approaches hold promise for identifying novel biomarkers and therapeutic targets, refining disease classification, and enabling tailored interventions for patients with uveitis.
Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease with limited therapeutic options and marked molecular heterogeneity. Despite available antifibrotic therapies, disease progression remains poorly predictable, highlighting the need for improved mechanistic understanding and therapeutic targeting. This review summarizes recent advances in multi-omics research to elucidate the molecular mechanisms underlying IPF and to identify potential biomarkers and pharmacological targets. Multi-omics studies, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiling, and single-cell sequencing, have revealed key pathogenic mechanisms in IPF. Genetic susceptibility factors such as
MUC5B
promoter variants and telomere-related genes contribute to disease risk. Epigenetic regulation, including DNA methylation, histone modifications, and non-coding RNAs, plays a central role in fibrotic remodeling. Transcriptomic and proteomic analyses have identified dysregulated signaling pathways, including TGF-β, mTOR, cellular senescence, and extracellular matrix remodeling. Metabolomic alterations indicate disrupted lipid and amino acid metabolism. Importantly, integration of multi-omics datasets enables the identification of molecular endotypes, candidate biomarkers, and potential therapeutic targets. However, challenges including data integration, tissue heterogeneity, limited cohort size, and the need for functional validation remain important barriers to clinical translation. Continued development of multi-omics approaches may facilitate more accurate disease classification and support the development of personalized therapeutic strategies for IPF.
Wen-Bo Hu, Xue-hui Wang· Frontiers in Pharmacology· 0 citations
This review focuses on the transition from single-omics to integrative multi-omics analysis, which helps overcome the constraints of individual omics strategies and provides a more systematic understanding of PD pathogenesis.
Emerging biomarkers are fundamental for the transition to precision medicine in IBD, aiming to enhance pathogenesis understanding, personalize therapies, and improve patient quality of life, establishing pathways for more effective, individualized management approaches.
Matheus Querino da Silva, João Daniel de Souza Menezes, José Luis Esteves Francisco et al.· PLoS ONE· 0 citations
One of the main challenges in the field of rare diseases (RDs) remains the persistent lack of timely and accurate diagnoses. Currently, it is estimated that over half of patients remain undiagnosed. The recent development of high-throughput omics technologies, such as genomics, transcriptomics, epigenomics, proteomics, and metabolomics, is transforming the diagnosis and research of rare genetic diseases. These technologies allow for a deeper understanding of the underlying molecular mechanisms and greatly improve diagnostic accuracy. This review outlines a comprehensive clinical workflow that integrates deep phenotyping, genomic variant identification, and functional validation with multi-omics approaches to enhance diagnostic accuracy in RDs. We detail the key methodologies, bioinformatics tools, and developmental processes used in omics, focusing on their roles in identifying and prioritizing candidate variants, interpreting variants of uncertain significance, and generating clinically relevant information. Furthermore, we highlight the importance of both targeted and non-targeted functional validation strategies, which provide essential evidence of pathogenicity. The integration of multi-omics approaches will improve our understanding of RDs, enhance diagnostic accuracy in clinical settings, and lay the foundation for future therapeutic development within the framework of precision medicine.
J. Olival, J. Pijuan, Natàlia Caelles-Gramunt et al.· Archives of Medical Research· 0 citations
Acute myeloid leukemia (AML) is a highly heterogeneous hematologic malignancy characterized by dynamic clonal evolution, diverse molecular alterations, and variable therapeutic responses. Although advances in genomic profiling have substantially improved disease classification and risk stratification, many patients continue to experience relapse and treatment resistance, highlighting the need for a more comprehensive understanding of AML biology. Recent developments in multi-omics technologies, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, and single-cell approaches, have enabled unprecedented insights into the molecular mechanisms underlying AML initiation, progression, and therapeutic failure. Integrative multi-omics analyses have revealed complex interactions among genetic mutations, epigenetic remodeling, metabolic reprogramming, and leukemia microenvironmental adaptations that collectively drive disease evolution. These approaches have also facilitated the identification of novel biomarkers, lineage-specific dependencies, and therapeutically actionable vulnerabilities that are not apparent from single-layer analyses. Furthermore, multi-omics-guided studies are accelerating the development of precision medicine strategies by improving patient stratification and uncovering mechanisms of drug resistance. In this review, we summarize recent advances in multi-omics technologies and discuss how integrative analyses are reshaping our understanding of AML evolution. We highlight emerging therapeutic targets identified through multi-omics investigations and examine their translational potential for innovative drug development. Finally, we discuss current challenges and future opportunities for implementing multi-omics-guided precision medicine in AML.
Chao An, Jingxin Zhang· Innovative Medicines & O...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.