The associate professor of neurology at Vanderbilt University Medical Center offered his perspective on his and colleagues’ study of single nucleotide polymorphisms in Huntington disease.
“SNPs are kind of randomly dispersed polymorphisms in the genetic code, and there have been data that show that there is a certain SNP that is more commonly present in some people than others. The question was could they design a technology that would take advantage of that SNP being on the same allele as the mutant Huntington expansion?”
Recent study findings from a group of investigators suggest that it is feasible to undergo clinical trials using single nucleotide polymorphisms (SNPs)-targeting candidates—such as Wave Life Sciences SNP1 and SNP2 candidates WVE-120101 and WVE-120102—and that allele-selective therapies may potentially address a significant portion of the population with Huntington disease (HD).
The study, conducted by Daniel O. Claassen, MD, MS, associate professor of neurology, Cognitive and Behavioral Neurology and Movement Disorders, Vanderbilt University Medical Center, and colleagues, identified heterozygosity of SNP1 and/or SNP2 in 72% (n = 146) of those in their assessment. The 2 polymorphisms were associated only with the mHTT allele in 61% (95% high-density interval: 55—67) of individuals.
To find out more about what brought this study together and prompted Claassen and colleagues to undertake the work, NeurologyLive sat down with him. He offered his perspective on the investigation and provided a brief history of the understanding of SNPs in HD.
Claassen DO, Corey-Bloom J, Dorsey ER, et al. Genotyping single nucleotide polymorphisms for allele-selective therapy in Huntington disease. Neurology. 2020;6(3):e430. doi: 10.1212/NXG.0000000000000430