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Leading the Fight to treat
and cure Tay-Sachs, Canavan and related diseasesdonate button

  • The Diseases
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  • Research
  • Help Prevent
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Carrier Screening

Carrier screening is an important and responsible part of family planning which allows you to find out whether you are a carrier of a genetic disease. Everyone should seek link to glossary genetic counseling prior to conception, but it is especially important for people of Ashkenazi Jewish (Eastern European) heritage because approximately one in four Ashkenazic Jews is a carrier of Tay-Sachs or a related disease. 

A carrier of a recessive disease like Tay-Sachs does not experience any adverse health effects. The link to glossary gene may be passed through the generations without anyone's knowing the gene is in the family until a child is diagnosed or the gene is detected through carrier screening.

Inheritance

Almost all of our genes come in pairs, one inherited from each of our parents. A carrier of a genetic condition is a person who has one copy of the same gene. A recessive condition like Tay-Sachs results when a child inherits two copies of an altered gene, one from each parent. Both parents must be carriers of the same recessive disease gene in order for any of their children to be affected.

If only one parent is a carrier, there is no chance of producing a baby with a recessive disease. There is, however, a 50% chance in each pregnancy that the child will be a carrier.


For more information, see About Inheritance.

Help Prevent

  • Carrier Screening
    • Types of Screening
      • Jewish Diseases
      • Tay-Sachs
      • Prenatal
    • Screening Centers
    • Insurance
  • Education Programs
  • Family Planning
    • Genetic Counseling
  • International Quality Control Program

Contact

National Tay-Sachs & Allied Diseases Association
2001 Beacon Street
Suite 204
Boston, MA 02135

info@ntsad.org
800-906-8723 phone
617-277-0134 fax

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Contact Joan Lawrence, Director of Donor Relations and Individual Giving (joan@ntsad.org) or Diana Pangonis, Communications Manager (diana@ntsad.org) if you have questions or want to list your Day of Hope event here.

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The Diseases

Tay Sachs
Canavan
Sandhoff
GM-1
Other

Leukodystrophies
Lysosomal Storage
Allied Diseases
About Inheritance

Find Support

Annual Family Conference
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Infantile & Juvenile
Tay-Sachs, Canavan, Sandhoff, GM-1

Newly Diagnosed
What to Expect
Symptom Management
Special Equipment
Services
Palliative & Hospice Care
Making Memories
Coping
Ways to Help
Grief
Preparing for the Unthinkable

Late Onset
Tay-Sachs, Sandhoff, GM-1

Newly Diagnosed
Communication Skills
Swallowing Difficulties
Employment
Housing
Mental Health
Mobility

Research

Potential Therapies
Overview
Gene Therapy
Stem Cell
Pharmacological Chaperone
Substrate Inhibition
Enzyme Replacement
Bone Marrow Transplant
Stop-Codon Read Through
Acetate Supplement
Biomarkers
Natural History Study
Evaluating Experimental Therapies

Research We Fund
The Research Initiative
NTSAD Research Strategy
Journey to a Cure
Tay-Sachs Gene Therapy Consortium
2011 Grants
2010 Grants
Past Grants
Lysosomal Storage Disease
Research Consortium


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Help Prevent

Carrier Testing
Types of Screening
Jewish Diseases
Tay-Sachs Disease
Prenatal
Screening Centers
Insurance
Education
Family Planning
Genetic Counseling
International Quality Control Program

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