For participation in this epidemiological(branch of medicine which deals with the incidence, distribution and control of diseases) study, a single-day visit at the study site is required. Participants will be recruited from HD clinics, and they will be asked to answer questions regarding their demographics, including sex, age, race and ethnicity, and their medical and medication history. At the end of the visit, a blood sample will be drawn to allow testing for a single nucleotide polymorphisms (SNPs) on the wild-type Huntington (wtHTT) and mutant Huntington (mHTT) alleles.
SNPs pronounced ‘snips’, are a single-letter spelling difference in a gene. They are common and most don’t change the function of the gene.
We have talked of SNPs before. WAVE Life Sciences was the first company to use this technique in HD trials: Precision 1 and 2 and Select.