Dipl. mol. med.
Rebecca Buchert

Intellectual disability

Intellectual disability (ID) is characterized by an impairment of cognitive and adaptive skills in affected individuals and has a prevalence of 1-3% in the population. Thus, intellectual disability poses a huge social as well as medical challenge. Intellectual disability is seldom caused by exogenous factors and in most cases genetic causes are suspected. Genetic causes of ID are very heterogeneous challenging an accurate genetic diagnosis in affected individuals. Chromosomal aberrations are causative in about 10% of cases and to date mutations in hundreds of different candidate genes have been reported. New technologies like Next Generation Sequencing (NGS) have played a substantial role in the identification of ID-genes in the last few years. Still, in about 40% of cases no diagnosis can be found, which implies that many ID-genes have remained undiscovered until now.

This research group aims at the identification of new candidate genes for intellectual disability as well as the functional characterization of impaired proteins to facilitate comprehensive genetic diagnosis and counseling for affected individuals. Furthermore, we are intending to broaden the understanding of individual disease causes and work towards developing targeted therapies adjusted to the needs of affected individuals.