Ads
related to: huntington's disease genetic testing protocol pdf- A Treatment Option
Learn About A Treatment
Option For HD Chorea.
- Common Side Effects
Learn About The Side Effects Of HD
Chorea Medication On Patients.
- Financial Assistance Info
Find Answers To Treatment
Free 30-day Trial Offer.
- Find More Resources
Download Guides And Materials For
Patients And Caregivers.
- Getting A Prescription
Learn How To Get A Prescription
To Treat Your HD Chorea Symptoms.
- Register Today
Register To Receive Updates And
Resources About HD Chorea.
- A Treatment Option
Search results
Results From The WOW.Com Content Network
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]
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]
Genetic testing is often done as part of a genetic consultation and as of mid-2008 there were more than 1,200 clinically applicable genetic tests available. [23] Once a person decides to proceed with genetic testing, a medical geneticist, genetic counselor, primary care doctor, or specialist can order the test after obtaining informed consent .
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 ).
The film begins at a dinner party. Filmmaker and actress Marianna Palka, 33 years old, is joined by friends in anticipation of the genetic testing results she will receive the next day, revealing whether or not she has inherited the presently untreatable neurodegenerative illness, Huntington's disease, from her father, who has the illness.
Huntington's disease stems from a defect that consists of an expanded CAG repeat in the huntingtin gene (HTT) located on the short arm p of chromosome 4. [7] Evidence shows that the basal ganglia in patients with Huntington's disease show a decrease in activity of the mitochondrial pathway , complex II-III.
Ad
related to: huntington's disease genetic testing protocol pdf