Molecular Biomarkers & Diagnosis

Non-coding RNAs (ncRNAs), which are RNA molecules that do not translate into proteins, have emerged as critical regulators in various biological processes, including gene expression, cellular development, and metabolism. Recent advancements have highlighted the significant role of ncRNAs in the pathophysiology of Cardiometabolic Diseases (CMD), including cardiovascular diseases, diabetes, and obesity. These diseases are a leading cause of morbidity and mortality globally, and their prevalence continues to rise with changing lifestyles and environmental factors. ncRNAs, particularly MicroRNAs (miRNAs), Long Non-Coding RNAs (lncRNAs), and Circular RNAs (circRNAs), have been shown to influence crucial biological pathways involved in inflammation, lipid metabolism, glucose homeostasis, and vascular function. Their ability to regulate gene expression and signaling pathways makes them potential biomarkers for early diagnosis, prognosis, and therapeutic intervention in CMD.

Chronic Kidney Disease (CKD) is a global public health challenge that affects millions of people worldwide and is characterized by a gradual decline in kidney function. Early detection of CKD is crucial to slowing disease progression and improving patient outcomes. Traditionally, the diagnosis of CKD relies on serum creatinine levels and glomerular filtration rate (GFR), but these biomarkers do not detect the disease until it has already reached an advanced stage. In recent years, metabolomics, the comprehensive study of metabolites within biological systems, has emerged as a promising tool for the early detection, diagnosis, and prognosis of CKD.

Cancer immunotherapy has emerged as one of the most promising approaches in the treatment of cancer, revolutionizing the field of oncology. By harnessing the body's immune system to target and destroy cancer cells, immunotherapy has shown remarkable success in treating various malignancies, including melanoma, non-small cell lung cancer, and hematological cancers. However, despite these successes, many patients do not respond to immunotherapy, and there is a critical need to better understand the molecular mechanisms underlying therapeutic efficacy. Single-cell RNA sequencing (scRNA-seq) has proven to be a powerful tool for identifying and characterizing cellular heterogeneity within tumors, revealing new insights into cancer biology and immunotherapy responses. scRNA-seq enables the high-resolution analysis of gene expression at the single-cell level, allowing researchers to uncover previously unrecognized cellular subpopulations that may play pivotal roles in immune evasion, therapy resistance, and tumor progression.

Artificial Intelligence (AI) has emerged as a powerful tool in modern healthcare, transforming the way diseases are diagnosed and treated. In particular, AI has proven invaluable in the identification and validation of molecular biomarkers, which are key indicators of disease presence, progression, and response to treatment. Molecular biomarkers, which include genetic, epigenetic, proteomic, and metabolomic markers, play a critical role in early disease detection, prognosis, and therapeutic decision-making.

The gut microbiome, consisting of trillions of microorganisms residing in the gastrointestinal tract, has been increasingly recognized as a critical player in human health and disease. It is now well-established that the gut microbiome influences various physiological processes, including digestion, immune function, and metabolism. More recently, it has been linked to the development and progression of several diseases, such as cardiovascular disease, cancer, diabetes, and neurological disorders. The microbiome's interaction with molecular biomarkers, which are biological molecules indicative of disease presence or progression, is an emerging field of study with significant implications for disease diagnosis.

 Rare cancers, although individually infrequent, collectively represent a significant global health burden. These cancers are characterized by unique molecular signatures that can complicate diagnosis and treatment. Unlike more common cancers, rare cancers often exhibit distinct biological behaviors, such as different mutation profiles, epigenetic modifications, and aberrant signaling pathways, which are often not well understood. As a result, the diagnostic process for rare cancers remains challenging, often leading to late-stage diagnosis or misdiagnosis. Molecular biomarkers have emerged as powerful tools in cancer diagnostics, offering the potential to identify specific genetic mutations, protein expression patterns, and molecular alterations associated with rare cancers.

Epitranscriptomics, the study of RNA modifications, has emerged as a promising field in cancer research due to its potential to reveal novel molecular mechanisms underlying tumorigenesis and progression. These RNA modifications, including methylation, pseudouridination, and acetylation, are crucial for regulating RNA stability, splicing, translation, and decay. In cancer, alterations in the epitranscriptome have been linked to various hallmarks of cancer, such as uncontrolled cell proliferation, evasion of apoptosis, and metastasis. Unlike genetic mutations that alter the DNA sequence, epitranscriptomic modifications represent a reversible layer of regulation that can modulate gene expression without changing the genetic code.

Inherited genetic variants have long been recognized as pivotal contributors to the risk and progression of various diseases. These variants, which are passed down from one generation to the next, can influence disease susceptibility, severity, and response to treatment. Recent advances in genomic technologies have provided a deeper understanding of how specific genetic alterations, such as Single Nucleotide Polymorphisms (SNPs), insertions, deletions, and copy number variations, affect the expression of genes involved in disease pathways.

Liquid biopsy has emerged as a revolutionary technique in the diagnosis, monitoring, and treatment of various cancers, particularly lung cancer. Unlike traditional biopsy methods, which involve invasive tissue extraction, liquid biopsy relies on non-invasive sampling of bodily fluids such as blood, urine, or saliva to detect cancer-associated biomarkers. This technique has gained significant attention due to its ability to provide real-time insights into tumor dynamics and genetic alterations without the need for tissue samples.

Chronic Inflammatory Diseases (CIDs), including rheumatoid arthritis, inflammatory bowel disease, and chronic obstructive pulmonary disease, are a major global health concern due to their high prevalence, complex etiology, and associated morbidity. Early diagnosis and accurate monitoring of disease progression are essential for effective treatment and improved patient outcomes. In recent years, exosome-based biomarkers have garnered significant attention as a promising tool for diagnosing and monitoring chronic inflammatory diseases. Exosomes, small extracellular vesicles secreted by various cell types, contain bioactive molecules such as proteins, lipids, and RNA, which can reflect the molecular alterations occurring in the body during disease processes.