Abstract
Huntington’s disease (HD) is an autosomal dominant neurodegenerative condition caused by >36 repeat expansions of CAG trinucleotides in the huntingtin gene (HTT). Longer repeat expansions are associated with greater severity and earlier onset. Although animal models for HD in different species have provided insights into its
pathogenesis and enabled the generation of potential therapies, these have shown limited efficacy when tested in clinical trials1 . Thus, there is an unmet need for physiologically relevant in vitro platforms to test and de-risk therapeutic approaches before testing them on animal models and/or transferring them into clinical evaluation.
In collaboration with CHDI, we have used our expertise in human induced pluripotent stem cells (iPSCs) to generate a portfolio of genetically engineered cell lines carrying targeted modifications at the HTT gene, to develop a powerful HD platform.
