
EMBO Associate Member
Uta Francke
EMBO 2009
Stanford University, United States
Our research interests have focused on the discovery of genes involved in heritable disorders and the study of their functions and of disease-causing mechanisms in human tissues and animal models. Recently, we developed mouse models for human microdeletion syndromes, such as Williams-Beuren syndrome and the imprinting disorder Prader-Willi syndrome, with the goal of identifying the genes and mechanisms underlying the phenotypic characteristics of these neurobehavioral disorders.
Keywords
Microdeletions / neurogenetic disorders / mouse models / snoRNA / imprinting