What is a Genetic Disorder?
There are three types of genetic disorders: monogenic, multifactorial/pathway and chromosomal.
A mutation occurs in the DNA sequence of a single gene. Most monogenic disorders are rare diseases such as Pompe disease, Huntington’s disease, hemophilia and cystic fibrosis.
Multifactorial or pathway disorders
These genetic diseases are caused by mutations in several genes and can be compounded by environmental factors such as smoking or diet. Common examples include heart disease, cancer and type 2 diabetes
These disorders occur when chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures in which our DNA is stored in our cells. Down syndrome is an example of a chromosomal disorder. Gene therapy is not used to treat chromosomal disorders.