What are Jewish
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.
are my chances of being a carrier for each
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
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.