Research Topic · Peer-Reviewed

Genetic Disease

Genetic disease refers to any disorder caused by an abnormality in the genome, whether inherited across generations or arising as a new mutation, and ranging from single-gene defects to chromosomal abnormalities and complex multifactorial conditions. The underlying changes may affect a single gene, multiple genes, o…

Curated from this journal's research 📚 8 peer-reviewed articles cited Cited 17× across the literature 🔖 ISSN 2997-1977

Overview

Genetic disease refers to any disorder caused by an abnormality in the genome, whether inherited across generations or arising as a new mutation, and ranging from single-gene defects to chromosomal abnormalities and complex multifactorial conditions. The underlying changes may affect a single gene, multiple genes, or the broader structure of the genome, and they alter the production or function of proteins in ways that disrupt normal physiology. Classic examples include cystic fibrosis, Down syndrome, and Huntington disease, while disorders such as Tay-Sachs disease illustrate how molecular characterization of a defect informs both diagnosis and the prospect of genetic medicine. Genetic disease spans inherited conditions like sickle cell disease, a major clinical burden requiring dedicated care strategies, and somatic genetic changes that drive the initiation and progression of sporadic, non-hereditary cancers. Modern study of genetic disease relies heavily on molecular and computational tools, including human proteome and bioinformatics resources used in disease diagnosis and treatment and the robust analysis of defective molecular pathways in conditions such as Parkinson's disease. Understanding the causes, symptoms, and mechanisms of genetic disease supports diagnosis, genetic counseling, and the development of targeted therapies, while advocacy and interventional programs address the needs of affected individuals. Connecting genotype to clinical phenotype is therefore central to managing the wide spectrum of genetically determined illness.

Research published in this journal

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

How this research is being cited

The 8 articles above have been cited 17 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Nov 2026.

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

Editorial oversight

Curated from peer-reviewed research published in Journal of Diseases (ISSN 2997-1977).

Journal editorial board
Charles Edward Rupprecht · United States Dr. Md. Rabiul Islam · Bangladesh Madalena Barroso · Germany

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