For Persons of Ashkenazi Jewish Decent
All around the world distinct ethnic groups have been identified as having increased risk for particular genetic disorders. In the Ashkenazi Jewish (Eastern European) population, several such inherited disorders are known. It is considered standard of care for doctors to offer carrier testing for Tay-Sachs, Canavan, Familial Dysautonomia and cystic fibrosis to individuals of Ashkenazi Jewish decent and their non-Jewish partners.
In addition to the genetic diseases listed below, there are a number of other disorders that occur more often in those of Ashkenazi Jewish heritage for which carrier testing is also available. NTSAD highly recommends genetic counseling to assist you through the testing process. It is often referred to as the ‘Jewish Panel;’ always confirm with your doctor or genetic counselor which diseases are included in the ‘Jewish Panel.’ Interested couples can have a blood test to learn about their specific chances of having a child affected by one of these diseases. Please note not all the common Ashkenazi Jewish diseases fall under the NTSAD umbrella. Please contact the provided resource for additional information on that particular disease.
Common Ashkenazi Jewish Diseases 
Bloom’s Syndrome
Bloom’s Syndrome is a condition in which children are small, grow poorly, have frequent infections,
and may have learning disabilities. As adolescents and young adults, individuals with Bloom’s
Syndrome can develop common cancers such as breast cancer, colon cancer and leukemia. The
carrier frequency in the Ashkenazi Jewish population is approximately 1 in 100.
Mount Sinai Center for Jewish Genetic Diseases, Inc.
Robert J. Desnick, Ph.D./M.D., Director
Mount Sinai Medical Center
Fifth Avenue at 100th Street
New York, NY 10029
p.212.659.6774
Consultations/Screening: 212.241.6947
Cystic Fibrosis (CF)
Cystic Fibrosis (CF) is a progressive, lifelong condition in which the glands that produce mucus, sweat
and intestinal secretions do not function properly. This results in thick mucus accumulation in the
lungs, leading to breathing difficulty and infection. CF also causes poor digestion, and males with this
disease are usually infertile. There is no cure for CF, but supportive treatments are available to help improve quality of life, and average life expectancy has improved over the years. While some babies with CF still die in infancy, many patients with CF live into their twenties and thirties. CF is found in all ethnic groups. It is most common among Caucasians, Jewish and non-Jewish alike, with a carrier frequency of about 1 in 25.
The Cystic Fibrosis Foundation
6931 Arlington Road
Bethesda, Maryland 20814
p.301.9514422 or 800.FIGHT CF (344.4823)
f.301.951.6378
info@cff.org
Familial Dysautonomia (FD)
Familial Dysautonomia (FD) is a disorder of the autonomic and sensory nervous systems. Symptoms
vary, but often include insensitivity to pain, unstable blood pressure, inability to produce overflow
tears, frequent pneumonia, and poor growth. Intelligence is normal. Death occurs in 50% of patients
by age 30.
Familial Dysautonomia Hope Foundation (FD Hope)
110 Deerwood Court
Chapel Hill, NC 27517
p. 828.238.3149
info@fdhope.org
Dysautonomia Foundation
315 West 39th Street, Suite 701
New York, NY 10018
Phone: 212-279-1066
Email: info@familialdysautonomia.org
Fanconi Anemia, Type C
Fanconi Anemia Type C is a chronic disease associated with small stature, bone marrow failure,
congenital malformations and a predisposition to leukemia. For some children, the condition may
also involve learning disabilities or mental retardation. The carrier frequency in the Ashkenazi
population is about 1 in 90.
Fanconi Anemia Research Fund, Inc.
1801 Willamette Street, Suite 200
Eugene, OR 97401
p.541.687.4658
Family Support Toll-Free Line (in United States): 800.828.4891
f.541.687.0548
info@fanconi.org
Mucolipidosis Type IV (ML-IV)
Mucolipidosis Type IV (ML-IV) is a rare disorder which affects the brain and nervous system. Symptoms
begin in the first year of life, resulting in severe psychomotor retardation and impaired vision. Some
people have milder forms of the disorder. There is no known treatment.
National MPS Society
P.O. Box 736
Bangor, ME 04402-0736
p.207.947.1445
f.207.990.3074
info@mpssociety.org
GENERAL RESOURCES
Chicago Center for Jewish Genetic Disorders
One South Franklin Street, Suite 2910
Chicago, IL 60606
p.312.357.4717
f.312.855.3295
jewishgeneticsctr@juf.org
Jewish Genetic Disease Consortium
315 West 39th Street, Suite 701
New York, NY 10018
p.212.362.4675
f.212.873.7892
info@jewishgeneticdiseases.org
Mount Sinai Center for Jewish Genetic Diseases, Inc.
Robert J. Desnick, Ph.D./M.D., Director
Mount Sinai Medical Center
Fifth Avenue at 100th Street
New York, NY 10029
p.212.659.6774
Consultations/Screening: 212.241.6947
National Society of Genetic Counselors
401 N. Michigan Avenue
Chicago, IL 60611
p.312.321.6834
f.312.673.6972
nsgc@nsgc.org
Victor Outreach and Screening Program for Ashkenazi Jewish Genetic Diseases at Tufts-New England Medical Center
Jodi D. Hoffman, MD
Director
750 Washington St. Box 340
Boston, MA 02111
p.617.636.7721
f.617.636.0745