Tay Sachs disease

Common Name(s)

Tay Sachs disease, Tay-Sachs Disease

Gangliosidosis (GM2) type 1, also known as Tay-Sachs disease, is a rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Tay-Sachs is caused by the absence of a vital enzyme called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of the brain. This ongoing accumulation causes progressive damage to the cells.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tay Sachs disease" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tay Sachs disease" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tay Sachs disease" returned 98 free, full-text research articles on human participants. First 3 results:

Three novel mutations in Iranian patients with Tay-Sachs disease.
 

Author(s): Solmaz Jamali, Nasim Eskandari, Omid Aryani, Shadab Salehpour, Talieh Zaman, Behnam Kamalidehghan, Massoud Houshmand

Journal: Iran. Biomed. J.. 2014 ;18(2):114-9.

 

Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing ...

Last Updated: 12 Feb 2014

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Characterization of inducible models of Tay-Sachs and related disease.
 

Author(s): Timothy J Sargeant, Deborah J Drage, Susan Wang, Apostolos A Apostolakis, Timothy M Cox, M Begoña Cachón-González

Journal: PLoS Genet.. 2012 Sep;8(9):e1002943.

 

Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system. The molecular events that lead to irreversible neuronal injury accompanied ...

Last Updated: 2 Oct 2012

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Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
 

Author(s): Mehul Mistri, Parag M Tamhankar, Frenny Sheth, Daksha Sanghavi, Pratima Kondurkar, Swapnil Patil, Susan Idicula-Thomas, Sarita Gupta, Jayesh Sheth

Journal: PLoS ONE. 2012 ;7(6):e39122.

 

Tay Sachs disease (TSD) is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. The mutations leading to Tay Sachs disease in India are yet unknown. We aimed to determine mutations leading to TSD in India by complete sequencing of ...

Last Updated: 22 Jun 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Tay Sachs disease" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for GM1/GM2 - Gangliosidoses
 

Status: Recruiting

Condition Summary: Gangliosidosis; GM1-Gangliosidosis; GM2-Gangliosidosis; Hexosaminidase Activator Deficiency; Tay-Sachs Disease, AB Variant; Hexosaminidase A and B Deficiency; Sandhoff Disease

 

Last Updated: 19 Nov 2014

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A Natural History Study of the Gangliosidoses
 

Status: Recruiting

Condition Summary: Tay Sachs Disease; Sandhoff Disease; Late Onset Tay Sachs Disease

 

Last Updated: 4 Dec 2014

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Synergistic Enteral Regimen for Treatment of the Gangliosidoses
 

Status: Recruiting

Condition Summary: GM1 Gangliosidoses; GM2 Gangliosidoses; Tay-Sachs Disease; Sandhoff Disease

 

Last Updated: 3 Dec 2014

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