Kliniken & Institute … Institute Humangenetik Forschung Abt. Molekulare…

Abteilung für Molekulare Humangenetik

Prof. Dr. rer. nat. Gudrun Rappold

Molekulare Humangenetik, Direktorin

06221 56-5059
06221 56-5155

Sekretariat Prof. Dr. rer. nat. G. Rappold


The focus of our research interest is on the molecular elucidation of human disease with a special focus on growth and neuronal disorders. To uncover the basic mechanisms on the causes of these disorders, our work employs different cell culture and animal models as well as differentiated stem cells. We would like to understand how mutations correlate with disease, how genes are regulated  and how they contribute to differentiation and development. 

By integrating genetic, molecular, biochemical and cell biological approaches, the basic understanding and function of these proteins and their roles in the relevant networks will be established.

Currently we are focusing on the following projects:

Developmental Genes and Growth Factors

•  The homeobox genes SHOX and SHOX2 

Genetic Causes of neurodevelopmental disorders

• The transcription factor FOXP1 and its target genes in cognitive development 

• The synaptic scaffolding protein encoding genes SHANK1,2 and 3  in autism schizophrenia and intellectual disability. 

 Genetics of neurogastroenterologic disorders

 • The pathogenesis of neurogastroenterologic and neurodevelopmental disorders and comorbid conditions such as anxiety and depression with a long standing interest on the serotonergic system  (Niesler lab)


Our work is supported by Heidelberg University, DFG-German Research Foundation, BMBF – Federal Ministry of Education and Research, Deutsche Krebshilfe - German Cancer Aid, Industry, Excellenzcluster (CellNetworks), Baden-Württemberg Stiftung, Private Foundations, Medical Faculty Heidelberg, Else-Kröner-Fresenius Stiftung, COST Association within HORIZON 2020