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What are Jewish Diseases?
Jewish genetic diseases refers to a group of diseases which all commonly occur in Jewish people of Eastern European descent.  The most well known of these diseases is Tay-Sachs.  The other genetic diseases include Bloom Syndrome, Canavan's Syndrome, Cystic Fibrosis, Familial Dysautonomia, Fanconi's Anemia, Gaucher disease and Neiman-Pick (Type A).

These diseases all result in medical conditions which require lifelong medical care, drastically reduce the lifespan of the individual, or even result in death of the child in early infancy.

What causes these Jewish diseases?
All of these diseases are caused by mutations in the gene responsible for each disease.  There are normally two copies of every gene.  Each different disease occurs when both copies of a gene are defective.  This can happen when both parents are carriers for that disorder.

A person with only one abnormal copy of this gene is known as a carrier, and has no known health problems.  However, if both parents pass an abnormal copy of the gene to their, child, the child will be affected.

What are my chances of being a carrier for each disorder? 
Tay-Sachs disease is caused by the lack of a substance called hexosaminidase A in the body. Symptoms include severe mental and developmental delays as well as seizures during the first few months of life.  An estimated one in 31 Ashkenazi Jews is a carrier for Tay-Sachs disease. 

Bloom syndrome results in individuals having many abnormalities including an increased susceptibility to cancer and leukemia. Some individuals with Bloom syndrome also have mental retardation. One in 100 Ashkenazi Jewish individuals is a carrier for Bloom syndrome. 

Canavan disease is caused by the lack of an enzyme in the body called aspartoacylase (ASPA).  Canavan disease may cause brain damage, a large head, tremors, blindness, feeding difficulties, poor weight gain, and problems with swallowing.  An estimated one in 40 Ashkenazi Jews is a carrier for Canavan disease. 

Cystic fibrosis (CF) is an inherited disorder that causes problems with breathing and digestion.   Cystic fibrosis may occur in any nationality and ethnic group. An estimated one in 29 Ashkenazi Jews and one in 25 Caucasians in the United States are carriers for cystic fibrosis.

Familial dysautonomia (FD) is an inherited disorder leading to problems with swallowing, temperature regulation, blood pressure regulation, feeding, and sensation to pain.   An estimated one in 30 Ashkenazi Jews is a carrier for FD.

Fanconi anemia in an inherited condition characterized by a reduced production of all types of blood cells.  Individuals with Fanconi anemia have many abnormalities including an increased risk for cancer and leukemia. An estimated one in 89 Ashkenazi Jews is a carrier for Fanconi anemia

Gaucher disease is an inherited disorder caused by a change in the gene responsible for making an enzyme called glucocerebrosidase   This can cause a wide range of abnormalities including liver and bone abnormalities.  Type 1 Gaucher disease is the most common genetic disorder among Jews. An estimated one in 10 Ashkenazi Jews is a carrier for Gaucher disease.

Niemann-Pick disease (Type A) is caused by the lack of a substance called acid sphingomyelinase. Individuals with Nieman-Pick have problems including developmental delay, progressive spasticity, blindness, an enlarged liver and/or spleen, and a "cherry-red spot" in the eye.   An estimated one in 100 Ashkenazi Jews is a carrier for Niemann-Pick disease.

How do I find out if I am a carrier?
There is a panel of DNA tests which can detect the majority of carriers for these disorders.  This is a simple blood test which detects the majority of mutations responsible for each of these disorders. 

Who should consider having these tests performed?
It is recommended that Jewish disease testing be made available to couples in ethnic groups considered at high risk for carrying these genetic disorders.  This includes couples in which one or both partners is of Eastern European Jewish descent.

How can I have these tests performed?
You may request this test yourself, or you can have this test ordered through your doctor's office.  Blood is needed to run this test, so you will need to have a sample drawn at a clinic, a lab, or in your doctor's office. You can order a sample collection kit, and request the sample be returned to us for processing.

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