While Gaucher disease (pronounced go-SHAY) affects people of all ethnic backgrounds, it is especially common in the Ashkenazi (Eastern European) Jewish population. Testing for Gaucher disease as well as prenatal screening and genetic counseling can help you determine the risk of passing the Gaucher gene to your children.
Jewish & Ashkenazi Genetic Diseases
Although Gaucher is pan-ethnic, Gaucher disease type 1 is the most prevalent inherited Jewish genetic disease. A number of genetic disorders occur more frequently in certain ethnic populations. In the Ashkenazi Jewish population (Eastern, Central and Northern European ancestry), it has been estimated that one in four individuals is a carrier of one of several genetic conditions.
These diseases include Tay-Sachs Disease, Canavan, Niemann-Pick, Gaucher, Familial Dysautonomia, Bloom Syndrome, Fanconi anemia, Cystic Fibrosis and Mucolipidosis IV. Some of these diseases may be severe and may result in the early death of a child. Carrier screening is available for all of these diseases with a blood test. Two carriers of the same disease have a 1 in 4 risk with each pregnancy of having a child affected with the disease for which they were identified as carriers.
Learn more about how Gaucher disease is inherited, or find out about prenatal screening and genetic counseling for Gaucher disease.