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Genetic testing for Huntington's disease has raised several ethical issues. The issues for genetic testing include defining how mature an individual should be before being considered eligible for testing, ensuring the confidentiality of results, and whether companies should be allowed to use test results for decisions on employment, life ...
Do You Really Want to Know? is a 2012 documentary film directed by John Zaritsky and produced by Kevin Eastwood.Using interviews and dramatic recreations, the film recounts the stories of three families who carry the gene for Huntington's disease, a neurodegenerative illness which is the result of a genetic abnormality, whose symptoms typically appear in mid-life. [1]
Nancy Wexler (born 19 July 1945) [1] FRCP MEASA is an American geneticist and the Higgins Professor of Neuropsychology in the Departments of Neurology and Psychiatry of the Columbia University College of Physicians and Surgeons, best known for her involvement in the discovery of the location of the gene that causes Huntington's disease.
Genetic testing is available for many SCA types, including the relatively common types SCA1, 2, 3, 6, and 7; and the less common SCA8, 10, 12, 14, and 17. [39] However, genetic testing is high in cost and has a low diagnostic yield, with positive diagnoses being found in only 24% of tests ordered by a subspecialist and 10% overall. [40]
Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage.
This is the case for Huntington's disease, where the trinucleotide repeat encodes a long stretch of glutamine residues. When the repeat is present in an untranslated region, it could affect the expression of the gene in which the repeat is found (ex. fragile X ) or many genes through a dominant negative effect (ex. myotonic dystrophy ).
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