The clinical importance of RTEL1’s role at telomeres was recently highlighted with the discovery that it is frequently mutated in Hoyeraal-Hreidarsson syndrome (HHS), a severe form of Dyskeratosis congenita (DKC) (Ballew et al., 2013a, Ballew et al., 2013b, Deng et al., 2013, Faure et al., 2014, Walne et al., 2013). The gene discussed is RTEL1; the disease is dyskeratosis congenita.