Rett syndrome was first described by Austrian pediatrician Andreas Rett in 1966. Huda Zoghbi demonstrated in 1999 that Rett syndrome is caused by mutations in the gene MECP2, a protein involved in chromatin remodeling and modulation of RNA splicing 1).

1)
Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007;56(3):422–437.