Mount Claremont

Researchers are studying the frequencies of certain single nucleotide polymorphisms (SNPs) linked to the Huntington Disease gene in people who carry the gene expansion. This study is focused on understanding genetic variations on both the mutant and normal Huntington alleles. Participants will be individuals confirmed to carry the Huntington Disease gene expansion, aged between 25 and 60 years. The study involves a single visit to the study site where participants will answer questions about their demographics such as sex, age, race, ethnicity, and medical and medication history. At the end of this visit, a blood sample will be taken to perform genetic testing that identifies specific SNPs on the mutant and wild-type Huntington alleles. During the visit, researchers will collect data and a blood sample to analyze the genetic markers. The main outcome measured is the frequency of selected SNP alleles in relation to the mutant and wild-type Huntington alleles, assessed on the day of the visit. Participation requires the ability to tolerate blood draws and confirmation of disease status and functional capacity within the past year.