Genetic Diseases

When you or a loved one is faced with a genetic disease it can be overwhelming, confusing and scary.

Genetic disorders run in families. While these diseases occur in all ethnic groups, some of them are far more common in certain populations than in others. To find out more information on a specific disease, including carrier frequencies, click on its name below.

All ethnic groups

Cystic Fibrosis
Fabry Disease
Fragile X Syndrome
Prader-Willi Syndrome
Spinal Muscular Atrophy
WHIM Syndrome

African American

Beta-Thalassemia
Sickle Cell Anemia

Asian

Alpha-Thalassemia
Beta-Thalassemia

Ashkenazi Jewish

The Ashkenazi Jewish Genetic Panel (AJGP) screens for all these diseases, plus Cystic Fibrosis. The chance that someone of 100% Ashkenazi descent will be a carrier of one of the diseases in the panel is 1 in 5.

Bloom Syndrome
Canavan Disease
Familial Dysautonomia
Familial Hyperinsulinism
Fanconi Anemia
Gaucher Disease (Type I)
Glycogen Storage Disease Type 1a
Joubert Syndrome 2
Lipoamide Dehydrogenase Deficiency (E3)
Maple Syrup Urine Disease
Mucolipidosis Type IV
Nemaline Myopathy
Niemann-Pick Type A
Tay-Sachs Disease (also more frequent among French Canadians, Cajuns, and people of Irish/British descent)
Usher Syndrome
Walker-Warburg Syndrome
 
Photo by Andre Helmstetter