The research group focusses on the identification of the genetic basis of disorders and their pathophysiology and on investigating the relationship between genotype and phenotype. Neurodevelopmental disorders are the main topic, but also other conditions are studied. Our research involves mainly patients, although we also use for disease modelling the mouse and Drosophila systems.
Neurodevelopmental disorders (NDDs) are mainly associated with cognitive impairment and in some cases also with behavioural problems e.g. autism. NDDs are both clinically and genetically extremely heterogeneous and up to now more than 1,600 genes are known, in which causative mutations have been identified. Each condition is a rare disease, but in the sum, NDDs are a frequent cause of parental concern and of referral to our genetic clinics. Our group has made numerous contributions to the field, identifying novel associated genes and molecular mechanisms and contributing the understanding of the underlying pathophysiology as well as to genotype-phenotype correlations.
All kinds of mutations have been identified, from single nucleotide variants in specific genes to genomic variants encompassing various genes as well as epigenetic alterations. Most of these variants are detectable with next generation sequencing, e.g. with exome and genome sequencing. At the Institute we operate a modern (short-read) sequencing platforms (NovaSeq 6000 and SeqNext 1000) including a powerful downstream data analysis pipeline. The platform is also used by the core unit NGS for transcriptomic analyses, both bulk and single cell based.
We work closely together with other Departments, especially Neuropaeditrics and Neurology, in the Centre for Rare Diseases Erlangen (ZSEER) where Prof. Reis coordinates a disease specific centre for NDDs. We are also members of the European Reference Network ITHACA (ERN-ITHACA) with Prof. Reis as the local coordinator.
In a long-standing collaboration with the Ophthalmology Department of the University of Cologne, we study the genetic basis of lymphangiogenesis. In this approach, we use the mouse system of the Collaborative Cross lines to systematically dissect the genetic basis of the naturally occurring variability in mice. Most the genes and gene products involved in the murine system will also be relevant for humans and may be relevant for transplantation, cancer and inflammation. This project is a close collaboration with Thomas Clahsen and Claus Cursiefen within the DFG Research Group FOR 2240
Finally, the group has an interest in hereditary predisposition to cancer.
In this field, our main clinical collaborators are the Gynaecology and Paeditric Departments among other. The activities are reflected in Centre for Rare Cancer Predisposition (GENKRE) within the Centre for Rare Disease (ZSEER). At the European level, we are members of the European Reference Network (ERN) for all patients with one of the rare genetic tumour risk syndromes (genturis) with Prof. Reis being the local coordinator.