WHAT ARE GENETIC DISORDERS?
A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. To learn more about different genetic disorders, browse through the Genetic Disorder Library.
Find out about health professionals that assist families who are affected by genetic disorders.
Multifactorial disorders result from mutations in multiple genes, often coupled with environmental causes.
Alpha-1 antitrypsin deficiency
Adenosine Deaminase (ADA) deficiency
These disorders result when a mutation causes the protein product of a single gene to be altered or missing.
In these disorders, entire chromosomes, or large segments of them, are missing, duplicated, or otherwise altered.
Maple Syrup Urine Disease (MSUD)
Severe combined immunodeficiency syndrome (SCID)
Smith-Lemli-Opitz Syndrome (SLOS)
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