Tay Sachs disease
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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. [1]
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- More Information (Found: 7 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
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The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Tay Sachs disease. Click on the link to go to OMIM and review these resources.
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PubMed lists journal articles that discuss Tay Sachs disease. Click on the link to go to PubMed and review citations to these articles.
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Genetics Home Reference (GHR) contains a condition summary on Tay Sachs disease. Click on the link to go to GHR and review this summary.
- Management Guidelines
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GeneReviews provides comprehensive articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the GeneReviews link to access the article on Tay-Sachs disease.
- Support Groups (Found: 9 Resources)
Groups providing a wide range of services, supportive resources, and information
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Research & Clinical Trials (Found: 1 Resources)
Resources where you may find research studies and clinical trials
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ClinicalTrials.gov lists trials that are studying or have studied Tay Sachs disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Services (Found: 1 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Genetic Services
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.