The Huntington`s disease

TheHuntington’s disease

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TheHuntington’s disease

NancyWexler is an American geneticist at Columbia University. She is theHiggins Professor of Neuropsychology. She is known for discoveringthe location of the gene causing Huntington’s disease. She works inthe field of genetics despite earning a Ph.D. in clinical psychology.Currently, she works as the president of the Hereditary DiseaseFoundation clinic initiated by her father. The personal situationthat motivated her to take up the study was the prevalence ofHuntington’s disease in her family(Quarrell, 2008).Her grandfather, mother and three uncles died of the disease. She gotprepared professionally for this task from the bright background asher father was a psychoanalyst while the mother was a geneticist. Shealso made up her mind to go for the gene testing, which added to hercredibility. Additionally, the doctoral thesis she wrote on theemotional features of people at risk for Huntington’s disease alsohelped her.

Shelargely contributed to the effort to produce a chromosomal test toidentify the carriers of the disease. Hungitin protein encodedby the Huntington’s gene plays a significant role in the neurons ofthe brain for development before birth. In the cells, this protein isinvolved in transporting materials, signaling chemicals, binding toproteins, and it protects the cells from self-destruction. The codingarea of the gene contains a DNA sequence repeated many times. Peopleinfected with Huntington disease have a high number of DNA, whichdisrupts the working of the gene protein (Quarrell, 2008). Thedisease is inherited in an autosomal pattern, meaning that thoseinheriting the faulty gene will get the disease. The results of herfindings helped the patients and their families to determine whethera person has a likelihood of developing, or escaping the disease.However, the positioning of the gene might make it hard to determineits presence in the body.

References

Quarrell,O. (2008).&nbspHuntington`sdisease.Oxford: Oxford University Press.