What are genetic diseases?

Genetic diseases arise from abnormal changes (mutations) to a person’s DNA that prevent some function of the body from performing normally. Not every mutation in someone’s DNA means they will develop a genetic disorder, but certain mutations are associated with genetic diseases. 

Genetic mutations are responsible for literally thousands of disorders and diseases, some of which are more commonly recognized, such as muscular dystrophy and cancer, while others are ultra-rare, such as pure autonomic failure (PAF) or familial amyloidosis (hATTR).

Resources to learn more

There are numerous organizations adding their voice to the growing body of education, research, and patient support around genetic diseases.

There are three types of genetic disorders responsible for the thousands of conditions:  monogenic, multifactorial/pathway, and chromosomal.

Monogenic disorders
In monogenic disorders, the 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 diseases
Still other genetic diseases are multifactorial, caused by mutations in several genes and can be compounded by smoking, diet, or other environmental factors. Common examples of these include heart disease, cancer, and type 2 diabetes.

Chromosomal disorders
Chromosomal 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.

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