Research

Many of our Institute´s current and recent research projects are described on this website. Browse and find out about the individual departments and research groups, which are mainly concerned with neurodevelomental genetics and nephrogenetics.

We are interested in understanding cases of rare diseases with an unknown molecular cause. The use of animal models, e.g. mouse and Drosophila, as well as stem-cell based cell models and organoids play a cruical role in the advancement of our research.

AG Simons

Nephrogenetics

The main goal of Matias Simons Lab is to understand the molecular mechanisms underlying kidney disease. Guided by “real-world” human genetic data, we are particularly interested in exploiting renoprotective gene variants for therapeutic strategies and in understanding how kidney cells maintain fitness in stress conditions.

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AG Schaaf

Genetics of Neurodevelopmental Disorders

The Schaaf Lab is dedicated to investigating the genetic basis of neurodevelopmental and neuropsychiatric disorders. Our focus is on translational research, using mouse models of human disorders, induced pluripotent stem cells and iNeurons.

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AG Schmitteckert

Neurogastrogenetics

The research group "Neurogastrogenetics" focuses on the elucidation of molecular pathomechanisms and the identification of novel candidate genes in gastrointestinal diseases such as irritable bowel syndrome, Crohn's disease and Hirschsprung disease. In addition to genetic and phenotypic analyses, we use human primary cell models.

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Junior AG Brennenstuhl

Genomic newborn screening

The Junior Research Group Genomic Newborn Screening is concerned with the use and optimisation of high-throughput sequencing methods for the pre-symptomatic identification of affected individuals with a genetically determined increased probability of developing diseases in childhood.

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AG Hoffmann

Cardiogenetics

The Cardiogenetics research group focuses on the elucidation of molecular mechanisms that control cardiac rhythm and are involved in the development of cardiac arrhythmias. To investigate the genetic and epigenetic basis of these disorders, we use mouse and stem cell-based model systems.

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AG Berkel

Molecular Neurogenetics

The aim of our research is to elucidate the molecular and cellular consequences of gene mutations underlying neurodevelopmental disorders by using human induced pluripotent stem cell-derived neurons and glia cells as a model.

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Seniorprofessorship Prof. Rappold

Prof. Gudrun Rappold was the director of the former Department for Molecular Human Genetics and was appointed to a senior professorship at the Faculty of Medicine of Ruprecht-Karls-Universität Heidelberg.

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AG Schmitteckert

nCounter Core Facility

The nCounter Core Facility offers state-of-the-art expression analysis technology for mRNA and miRNA profiling as well as multicellular digital spatial profiling at transcript and protein level.

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AG Althammer

Translationale Neurowissenschaften

The research group Translational Neuroscience (AG Althammer) explores the significance of oxytocin signaling in mouse and rat models of two genetic disorders: Prader-Willi (PWS) and Schaaf-Yang (SYS) syndromes. Prader-Willi Syndrome and Schaaf-Yang Syndrome are both rare genetic disorders that affect individuals from birth and have distinct clinical features and genetic causes.

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AG Laugsch

Transcriptional regulation in developmental disorders

Our laboratory explores one of the pivotal moments of early human development: the formation of the head, face, and brain. To elucidate the transcriptional regulation upon these processes we incorporate cutting-edge methods from various disciplines.

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AG Fröhlich

MOUSE MODELS FOR NEURODEVELOPMENTAL DISORDERS

The Fröhlich group is dedicated to research into severe neurodevelopmental disorders that are clinically characterised by autistic behaviour. Our studies on specific mouse models serve to better understand the molecular mechanisms underlying the pathology. Based on our findings, we are also working on specific treatment strategies that we are testing in preclinical studies on our mouse models.

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AG Boutros

Molecular Human Genetics

Interactions between genes control key decisions during development, health and disease. In the Boutros lab, we develop and apply genetic and functional genomic approaches to systematically analyse the underlying, context-dependent molecular mechanisms. Our aim is to gain a better understanding of cellular signalling pathways during development and disease using genetic and genome engineering approaches. The lab has a particular focus on analysing Wnt signalling pathways in development and cancer.

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