Genetics and Genomics Genetics of Disease

Overview

Genetics and genomics of disease is the study of how variations in genes and across whole genomes contribute to the occurrence, susceptibility, prevalence and characteristics of diseases. Genetics focuses on individual genes and inherited variants, while genomics takes a broader view of the entire genome and how many genetic factors, together with environment, shape disease risk and phenotype. This field matters because understanding the genetic basis of disease underpins diagnosis, risk prediction, prevention and the development of targeted therapies, and because comparative and population approaches can reveal why certain diseases cluster in particular lineages or groups. Key aspects include identifying disease-associated variants, studying prevalence and epidemiology across populations, and using model organisms or related species as comparative models for human conditions. Phylogenetic and breed-based comparisons can help isolate the genetic component of a disease's prevalence and phenotype. Related peer-reviewed open-access research available here includes a pilot study analyzing phylogenetic proximity among dog breeds affected by osteosarcoma, used as a comparative model to inform the prevalence and epidemiology of the equivalent human bone cancer.

Research published in this journal

1 peer-reviewed article, ranked by relevance. Each links to its DOI.

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

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