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Genetic testing can be used to confirm a physical diagnosis if no family history of HD exists. Even before the onset of symptoms, genetic testing can confirm if an individual or embryo carries an expanded copy of the trinucleotide repeat (CAG) in the HTT gene that causes the disease.
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.
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.
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]
Once a panel of associated genetic markers have been established for a particular disease it can be used for all carriers of that disease. [61] In contrast, since even a monogenic disease can be caused by many different mutations within the affected gene, conventional PGD methods based on finding a specific mutation would require mutation ...
All of these diseases have neurological symptoms. Prior to the understanding of the genetic mechanism for anticipation, it was debated whether anticipation was a true biological phenomenon or whether the earlier age of diagnosis was related to heightened awareness of disease symptoms within a family.