Human disease is any disturbance of normal structure or function in the body that produces characteristic signs, symptoms, or measurable abnormalities. Diseases are commonly classified by cause, into infectious, genetic, metabolic, neoplastic, degenerative, autoimmune, and environmental categories, and by the organ …
Human disease is any disturbance of normal structure or function in the body that produces characteristic signs, symptoms, or measurable abnormalities. Diseases are commonly classified by cause, into infectious, genetic, metabolic, neoplastic, degenerative, autoimmune, and environmental categories, and by the organ system affected. Modern study of disease has moved beyond clinical description toward mechanistic understanding at the molecular and cellular level, seeking the proteins, genes, regulatory elements, and signalling pathways whose disruption initiates and sustains pathology. The research assembled here illustrates this systems-oriented approach. Several studies apply bioinformatics and computational analysis to disease, including the human proteome project's role in diagnosis and treatment and the examination of regulatory single-nucleotide polymorphisms in transcription-factor binding sites linked to disease susceptibility and to high-altitude adaptation. Others develop experimental disease models, such as in vitro systems for preclinical cardiotoxicity and safety testing and xenotransplantation approaches for monitoring malignant cell populations, that allow mechanisms and therapies to be probed outside the patient. Infectious and inflammatory disease is also represented, from the pathogenesis of SARS-CoV-2 in affected cells to molecular biomarkers of anti-inflammatory activity. Collectively this work treats human disease as a problem to be decoded through genomic, proteomic, and model-based investigation, with the aim of more precise diagnosis and targeted intervention.
9 peer-reviewed articles, ranked by relevance. Each links to its DOI.
The 9 articles above have been cited 22 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
A sample of recent works citing this journal's research on Human Disease, linking to each citing work.