Genetic Diseases

Overview

Genetic diseases are disorders caused by abnormalities in an individual's genome, arising from mutations in single genes, alterations in chromosome number or structure, or the combined effects of multiple genetic variants and environmental factors. They may be inherited through Mendelian patterns from one or both parents or occur as new mutations, and they range from monogenic conditions such as Tay-Sachs disease, in which a defined molecular defect produces progressive disease, to complex disorders influenced by many loci. Research in this field characterizes the molecular basis of disease and the contribution of genetic variation, including polymorphisms such as ACE insertion/deletion variants and other single-nucleotide changes associated with conditions like hypertension, stroke, and cancer, where allele and genotype frequencies in particular populations shape disease risk. Genetic factors also operate at the maternal-fetal interface, where genotype incompatibility between mother and offspring can influence reproductive and developmental outcomes, and specific variants such as those affecting immune-related genes are studied for their role in disease susceptibility. The application of integrated genomic and proteomic techniques supports diagnosis, classification, and the movement toward personalized medicine and customized therapeutic and nutritional strategies. Genetic diseases carry substantial clinical, ethical, and societal implications, and their study informs molecular diagnosis, genetic counselling, risk assessment, and the development of targeted and emerging genetic therapies aimed at the underlying cause of disease.

Research published in this journal

7 peer-reviewed articles, ranked by relevance. Each links to its DOI.

How this research is being cited

The 7 articles above have been cited 12 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.

• The Diverse Landscape of Cancer Genomics in Africa
  2026 · Nature & Anthropology
• Peripheral biomarkers of neuroinflammation in Alzheimer’s disease and vascular dementia
  2026 · Biochemical Pharmacology
• Association of peripheral blood NLRP3, sTREM2, and p-tau217 levels with cognitive outcomes in patients with chronic alcohol-related brain damage
  2026 · Alcohol and Alcoholism
• Chronic alcohol consumption induces phenotypic and functional alterations consistent with a hyper-inflammatory state in peripheral blood mononuclear cell-derived microglia in a rhesus macaque model
  Hami Hemati et al. · 2025 · Brain, behavior, and immunity
• AI-enabled Recapitulated Neuro Fuzzy Optimization (RNFO)algorithm for evaluating the food consumption and nutrition during COVID-19
  H. M. Henrietta et al. · 2025 · 2025 IEEE International Conference on Interdisciplinary Approaches in Technology and Management for Social Innovation (IATMSI)
• Chronic alcohol consumption induces phenotypic and functional alterations consistent with a hyper-inflammatory state in peripheral blood mononuclear cell-derived microglia in a rhesus macaque model
  2025 · Brain Behavior and Immunity
• Efficient inference of parent-of-origin effect using case-control mother–child genotype data
  2024 · Journal of Statistical Planning and Inference
• Evaluating the Efficacy of Miglustat and Ambroxol Combination Therapy in a Phase 1b/2 Virtual Drug Trial for Type 1 Tay-Sachs Disease Using aiHumanoid Simulations
  2024 · medRxiv (Cold Spring Harbor Laboratory)

A sample of recent works citing this journal's research on Genetic Diseases, linking to each citing work.

This page summarises published research for orientation; it is not medical or professional advice.

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