Forschung

Abteilung für Molekulare Humangenetik

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 homeobaox genes SHOX and SHOX2 

Genetic Causes of neuronal developmental disorders

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

• The synaptic scaffolding gene SHANK2 in autism and mental retardation. 

• The role of MEGAP and Lamellipodin in neuronal development and mental retardation.

 
Neurogastrointestinal and psychiatric disorders

 • The pathogenesis of neurogastrointestinal and psychiatric disorders with a main focus on the serotonergic system, in particular the serotonin type 3 receptors (5-HT3Rs) (AG Niesler)

Funding 

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