Louma G. Foundation Laboratory of Epigenetic Research (Bjornsson lab) Department of Genetic Medicine Johns Hopkins University
Kabuki syndrome: on the road towards treatment for intellectual disability.
Kabuki syndrome is a prototypical Mendelian disorder of the epigenetic machinery and the Bjornsson lab at Johns Hopkins/University of Iceland thinks that by a detailed study of this disorder we may learn some truths about how epigenetic disruption leads to disease states. The genetic aetiology of Kabuki syndrome type 1, was uncovered only 10 years ago (2010). In the last 10 years, Bjornsson lab has made major strides in understanding the disease mechanism of this genetic disorder and performing proof-of-principle studies to show that aspects of this disorder may be a treatable even after birth.