A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can be as small as a single-base mutation in just one gene, or they can involve the addition or subtraction of entire chromosomes. A person can be born with gene mutations, or they can happen over a lifetime. Mutations can occur when cells are aging or have been exposed to certain chemicals or radiation.
HOW IS GENETIC DISORDERS DIAGNOSED?
The diagnosis of most genetic disorders is done at birth. However, there could be conditions such as Huntington’s Disease that may be identified years later. Prenatal diagnosis can help in taking the right step towards the management of the condition. There are invasive procedures such as amniocentesis that can help in identifying characteristic abnormalities in fetal development.
HOW IS GENETIC DISORDERS TREATED?
Treatment of Genetic Disorders is generally not possible. Only symptomatic relief may be provided. Research is being conducted in Gene therapy for treating various disorders. A healthy gene is introduced to a patient in gene therapy.
DID YOU KNOW?
One can inherit a gene mutation from one or both parents. A mutation can also happen for a lifetime. The life expectancy in many cases is very less and may vary from a few months to some years. For other cases it may be managed with a lifetime of treatment. Genetic counselling is done for parents with a disorder to build awareness.