How are genetic conditions and genes named?
Genetic conditions are named through a variety of historical and descriptive methods, while human genes are assigned official, standardized names by a formal committee.
Naming Genetic Conditions
Genetic conditions are not named in one standard way. Doctors who treat families with a new, previously unknown disorder are often the first to propose a name. Later, healthcare professionals, researchers, and affected individuals may revise the name to improve its usefulness for communication and care. Condition names are often derived from:
- Basic defect: The genetic or biochemical defect (e.g., alpha-1 antitrypsin deficiency).
- Gene involvement: The gene in which the variant occurs (e.g., TUBB4A-related leukodystrophy).
- Signs or symptoms: Major clinical features (e.g., hypermanganesemia with dystonia).
- Affected body parts: (e.g., brain-lung-thyroid syndrome).
- Eponyms: The name of a physician or researcher (e.g., Marfan syndrome).
- Geography: (e.g., familial Mediterranean fever).
- Patient or family name: (e.g., Lou Gehrig disease).
Conditions named after a person are called eponyms and can be written in possessive (Alzheimer’s disease) or nonpossessive (Down syndrome) forms.
Naming Genes
The HUGO Gene Nomenclature Committee (HGNC) designates an official name and symbol (an abbreviation) for each known human gene. The HGNC has named more than 19,000 of the estimated 20,000 to 25,000 protein-coding genes in the human genome.
Because genes often acquire several alternate names during the research process, the HGNC assigns a unique name and symbol to each gene. This standardization allows for effective organization in large databanks and aids the advancement of research.