JEWISH GENETIC DISEASES

We can’t cure genetic diseases—but we can prevent them.  Jewish people of Ashkenazi (European) descent are at high risk of carrying a gene for a tragic genetic disease that may result in the severe permanent disability and/or early death of their children.  Jews of Sefardi (Eastern) descent are much less likely to carry these genes—though the possibility does exist.

Many of these genes can be passed down by carriers for generations without affecting their children.  When a carrier marries a non-carrier, they may pass on the gene to the next generation, but their own children will not be affected.  However, when two carriers marry, they have a good chance of having one or more affected children.

Testing is available today to determine carrier status for many of these Jewish genetic diseases.  These tests can be used to either prevent the marriage of two carriers or to prepare a dual-carrier couple to deal with the real possibility of a child affected by these diseases.  A simple blood test can make all the difference.

These are some of the more common genetic diseases that affect our community:

Bloom Syndrome

Affected children are born small and remain short.  Their skin may have a reddish tinge.  They tend to have frequent lung and ear infections, among other issues.

Canavan Disease

A form of leukodystrophy that gradually destroys the brain tissue, resulting in severe disability. It causes progressive delays or regression of mental and physical development.

Cystic Fibrosis

Also called mucoviscidosis.  This life threatening disease is known for the production of excessively thick and sticky mucus in the lungs and digestive tract, and a high level of salt in secreted mucus and sweat.  There is frequent coughing, wheezing, and respiratory infections, unusual or delayed bowl movements or bowl obstruction, salty tasting skin, and delayed growth.

Familial Dysautonomia

People with this issue cannot feel pain, they have trouble with speech and coordination, and sweat excessively.

Fanconi Anemia

A life threatening disease which affects the blood cells, the heart, the kidneys, and extremeties.  People with FA are more susceptible to forms of cancer.

Gaucher Disease

This metabolic disorder is the most common form of lipidosis (fatty acid oxidation disorder) caused by missing enzymes which are needed to break down the fats in the body.  This causes toxic products to accumulate in the liver, spleen, and bone marrow, leading to an enlarged liver and brownish pigmentation of the skin.

Glycogen Storage Disorder Type 1a

A disease caused by missing enzymes in the process of breaking down glycogen in the body. It causes enlargement of the liver and kidney, slowed growth, and exceptionally low blood sugar levels.  It can also cause abnormally high levels of acids, fats, and uric acid in the blood

Maple Syrup Urine Disease

A metabolic disorder which causes amino acid to accumulate in the blood, with toxic effects.  The infant’s urine smells of burnt maple sugar.  The child is lethargic, refuses to eat, and has convulsions.

Mucolipidosis 4

A disorder affecting the nervous system, causing it to deteriorate.

Neimann-Pick Disease Type A

A disease causing spingomyelin, a type of fat, to build up in the cells of the liver, spleen, lymph nodes, and bone marrow.

Tay-Sachs Disease

A metabolic disease which causes ganglioside, a type of fat, to build up in the brain and nervous system, causing regression and eventual death.

Torsion Dystonia

An issue causing ongoing spasms that twist the muscles of the arms, legs, and sometimes the body.

Usher Syndrome Types 1 &  3

Disorders in which hearing loss is present at birth or develops by early adulthood, and retinis pigmentosa occurs in adolescence, causing visual impairment.

To get an idea of the frequency of carrier status among Jews of European decent, see the following chart published by the Genetics Center:

There are two different systems of doing Jewish genetic testing.

Dor Yeshorim Pre Engagement Testing Program

Dor Yeshorim is an international Jewish organization created to stop the spread of Jewish genetic diseases by preventing the marriage of two carriers.  Males and females of marriageable age take a simple blood test under Dor Yeshurun’s auspices, which are analyzed in Dor Yeshorim’s own specialized laboratory.  Carrier status for any genetic disorder from Dor Yeshorim’s list is recorded on their central  database for future reference.  Each person receives an identification number, which he/she will use in the future to identify himself to Dor Yeshorim’s staff.  To protect family confidentiality, no names are ever used.

Before considering marriage, the couple will call Dor Yeshorim’s hotline to check if both their ID numbers are genetically compatible—in other words, if they are NOT both carriers of the same genetic disease.  They will never be told their actual carrier status—they will only be told whether or not they are genetically compatible. The purpose is to possibly prevent the marriage of two carriers of the same genetic disease while not burdening them and their families with the agonizing social and emotional burden that comes with knowing their abnormal genetic carrier status.  This program accepts only couples before their engagement.  Others are referred to genetic counselors

Dor Yeshorim has many branches across the globe, all connected to the central database.

Their main branch is located at:

429 Wythe Avenue

Brooklyn, New York   11211

718-384-2332

Laboratory Based Testing

There are a number of medical center laboratories that do the blood work for genetic testing.  They do reveal to patients their carrier status, and refer affected couples for genetic counseling.

Some medical centers in the New York-New Jersey area that do genetic testing are:

1. Mount Sinai
2. New York University Medical Center
3. North Shore/Long Island Jewish
4. Hackensack University Medical Center
5. UMDNJ-New Jersey Medical School in Newark, NJ
6. St. Joseph’s Children’s Hospital in Paterson, NJ

See our listings under Medical Organizations > Jewish Genetic Disorders for organizations in various areas that can help with information, referrals, and funding.