The advent of high-throughput RNA sequencing technologies has revolutionized our understanding of complex diseases, particularly cancer, by unraveling the intricate landscape of gene expression dynamics. Bulk transcriptome analysis, single cell RNA sequencing (scRNA-seq), and spatial transcriptomics have emerged as indispensable tools in this endeavor, offering unprecedented resolution and depth in deciphering the molecular mechanisms underlying disease progression and therapeutic response.
Bulk transcriptome analysis enables the comprehensive profiling of gene expression patterns across populations of cells, providing valuable insights into dysregulated pathways and candidate biomarkers associated with disease phenotypes. Through differential expression analysis and pathway enrichment studies, bulk RNA sequencing has facilitated the identification of key molecular drivers and therapeutic targets in various cancer types, paving the way for precision medicine approaches.
Complementing bulk transcriptomics, scRNA-seq offers unparalleled resolution by capturing gene expression profiles at the single-cell level. This technology has unveiled the heterogeneity within tumor microenvironments, shedding light on rare cell populations, cellular states, and dynamic transcriptional trajectories that dictate disease progression and therapeutic resistance. Integration of scRNA-seq data with clinical outcomes has enabled the identification of novel prognostic markers and the development of personalized therapeutic strategies tailored to individual patients.
Furthermore, the recent advancements in spatial transcriptomics have provided spatial context to gene expression profiles, offering spatially resolved maps of the tumor microenvironment and its interactions with neighboring cells. This spatially resolved transcriptomic data has elucidated complex cellular interactions, immune infiltration patterns, and spatially restricted signaling networks within the tumor ecosystem, guiding the development of spatially targeted therapies and immunotherapies.
In this Collection, we highlight the transformative impact of RNA biology in unraveling the molecular underpinnings of complex diseases such as cancer, with a focus on the contributions of bulk transcriptome analysis, scRNA-seq, and spatial transcriptomics. We discuss recent technological advances, methodological considerations, and translational applications, underscoring the potential of RNA-centric approaches in driving precision medicine and improving clinical outcomes for patients with complex diseases.
