These biological data were subsequently confirmed by cryo-electron microscopy (cryo-EM) studies, which provided definitive support for the presence of conformationally distinct tau strains in human tauopathy patient samples (Falcon et al., 2018; Falcon et al., 2019; Fitzpatrick et al., 2017; Shi et al., 2021; Zhang et al., 2020). The gene discussed is MAPT; the disease is tauopathy.