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Joseph Samaha, Jim Dagher, Shayan Abdollah Zadegan

Huntington’s disease (HD) is a neurodegenerative disease inherited in an autosomal dominant manner. It is caused by an expansion of cytosine, adenine, guanine (CAG) repeats within the huntingtin (HTT) gene, which is located on chromosome 4. This pathological expansion of CAG repeats results in the production of a mutant huntingtin protein with an abnormally long polyglutamine […]

Niemann-Pick type C disease

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Published Online: May 5th 2014

For patients with Niemann-Pick type C (NPC) disease, the test will make it possible to begin treatment earlier, when it is more likely to improve quality of life. The fatal genetic disorder frequently takes years to diagnose, and earlier detection could extend the lives of those suffering this rare disorder.

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