Genetic disorder
(Redirected from Familial disease)
A genetic disorder refers to a condition that is caused in part or in whole by changes, or mutations, in the DNA sequence of a specific gene or set of genes. These genetic changes can be inherited from one or both parents or can occur spontaneously during an individual's life. The genes carry instructions that guide the growth, development, and function of the body, and abnormalities can result in a wide range of health problems.
Types of Genetic Disorders[edit | edit source]
Genetic disorders are classified into four primary categories based on the way they are inherited:
- Single-gene disorders: These are caused by mutations in a single gene. Examples include sickle cell disease, cystic fibrosis, and Huntington's disease.
- Chromosomal disorders: These occur when chromosomes, or parts of chromosomes, are missing or changed. Examples include Down syndrome, Turner syndrome, and Klinefelter syndrome.
- Multifactorial disorders: These disorders are caused by a combination of genetic and environmental factors. Examples include heart disease, diabetes, and cancer.
- Mitochondrial disorders: These rare disorders are caused by mutations in the non-chromosomal DNA of mitochondria. Examples include Leber's hereditary optic neuropathy (LHON) and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
Diagnosis and Treatment[edit | edit source]
Genetic disorders can be diagnosed through genetic testing, which includes methods such as gene sequencing and chromosomal analysis. Prenatal testing is available for some genetic disorders to identify risks in unborn children.
Treatment varies widely depending on the specific disorder and its severity. Some genetic disorders can be managed with medication or dietary modification, while others may require surgery or physical therapy. Genetic counselling is often recommended for families affected by genetic disorders to understand the risk of recurrence in future pregnancies.
Future Perspectives[edit | edit source]
Advancements in the field of genetics and genomics, including gene therapy and CRISPR gene-editing technologies, offer potential for future treatments and possibly cures for some genetic disorders.
List of genetic diseases[edit | edit source]
Genetic_diseases-A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
References[edit | edit source]
See Also[edit | edit source]
Genetic disorder Resources | |
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