Daniel Claassen, MD, MS: Takeaways from SNP Research in Huntington Disease


The associate professor of neurology at Vanderbilt University Medical Center offered his perspective on the feasibility of genotyping, phasing, and targeting of SNPs in Huntington disease.

“Just using these 2 SNPs—SNP1 and SNP2—if there’s a potential therapy for modifying mutant huntingtin in an allele-specific manner, almost two-thirds of patients would qualify based on our findings.”

Data recently collected by a group of investigators including Daniel O. Claassen, MD, MS, suggest that clinical trials could feasibly use investigative agents targeting single nucleotide polymorphisms (SNPs) that are allele-selective to address a significant portion of the population with Huntington disease (HD).

The associate professor of neurology in the Department of Cognitive and Behavioral Neurology and Movement Disorders at Vanderbilt University Medical Center explained to NeurologyLive that he and colleagues used next-generation sequencing to assess the feasibility. Their data showed heterozygosity of SNP1 and/or SNP2 in 72% (n = 146) of patients, with the 2 polymorphisms linked only with the mutant HTT (mHTT) allele in 61% (95% high-density interval: 55—67) of individuals.

In this interview, Claassen offered his perspective on the data and provided an overview of the takeaways for the clinical community. He suggested that this confirmation is really one of the first steps at truly developing personalized medicine in the treatment of patients with HD, and spoke to the next steps that need to be taken with the agents in the pipeline that could address this need: Wave Life Science’s SNP1 and SNP2 candidates WVE-120101 and WVE-120102.­


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

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