Genetic Disorders

Genetic Disorders (pronunciation: jəˈnedik disˈôrdər) are medical conditions that are caused by abnormalities in an individual's genome. These abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes.

Etymology

The term "genetic" comes from the Greek word "genetikos" which means "genitive" and "genes" meaning "born". The term "disorder" comes from the Old French "desordre" which means "lack of order".

Types of Genetic Disorders

There are several types of genetic disorders, including:

Single-gene disorders: These are caused by mutations in the DNA sequence of one gene. Examples include Cystic Fibrosis, Sickle Cell Anemia, and Huntington's Disease.

Chromosomal disorders: These are caused by changes in the number or structure of the chromosomes. Examples include Down Syndrome, Turner Syndrome, and Klinefelter Syndrome.

Complex disorders: These are caused by a combination of genetic factors and environmental factors. Examples include Heart Disease, Diabetes, and Cancer.

Diagnosis and Treatment

Diagnosis of genetic disorders can be done through Genetic Testing, which involves examining a person's DNA in a laboratory. Treatment varies depending on the specific disorder and may include medical management, surgery, physical therapy, and genetic counseling.

Related Terms

Genome: The complete set of genes or genetic material present in a cell or organism.
Mutation: A change in the DNA sequence that makes up a gene.
Chromosome: A thread-like structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes.