EP242: Analytical validation of a PCR/CE assay that phases SNPs with CAG-expanded alleles for selecting Huntington disease patients for allele-selective treatments

Abstract

More than 30,000 people in the US have Huntington Disease (HD) and another approximately 200,000 are at-risk of developing the disorder. HD is an autosomal dominant disease that is caused by expansions of >35 CAG repeats in exon 1 of the HTT gene. Accumulation of mutant HTT (mHTT) protein causes progressive loss of neurons in the brain. Specific single nucleotide polymorphisms (SNPs) are known to be situated on the same allele as the repeat expansions and can be targeted in patients using allele-selective treatments.