genetic disease

Also known as: genetic disorder

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Last updated

June 29, 2026

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Human genetic diseases are conditions caused by abnormalities in an individual's genes or chromosomes. These defects can arise from various sources, including chromosomal aberrations, single-gene mutations (Mendelian or non-Mendelian inheritance), or multifactorial causes involving multiple genes and environmental factors.12

Management of genetic diseases involves counseling, diagnosis, and treatment. Diagnosis can be clinical, based on symptoms, or molecular, identifying gene mutations. While some genetic diseases have effective treatments like dietary management, enzyme replacement, or gene therapy, others currently lack cures. Genetic testing plays a crucial role in identifying risks, enabling early intervention, and informing family planning decisions.34

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metastasis
Genetic defects and metastasis
…is unlikely that a single genetic defect brings it about. It seems more reasonable to predict that a number of aberrant genes contribute to metastasis. The complexity of aberrant gene interactions associated with metastasis has been demonstrated by multiple studies. For example, in a study of breast cancer patients whose…
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…is unlikely that a single genetic defect brings it about. It seems more reasonable to predict that a number of aberrant genes contribute to metastasis. The complexity of aberrant gene interactions associated with metastasis has been demonstrated by multiple studies. For example, in a study of breast cancer patients whose…
Read More