Research activities
Aim i) Research subjects are subjected to genomic analyses. Candidate variants are selected on the basis of genetic characteristics and expected functional effects in relevant traits.
Aim ii) Selected genetic variants are investigated using a state of the art platform that combines clinical, biochemical, molecular and structural biology or molecular pathology techniques that are either already available or will be developed in our laboratories or performed in ad hoc collaboration with others. A broad variety of models will be used, including transient and/or stable expression and gene editing in established cell lines, induced pluripotent stem cells and organoids as well as appropriate model organisms.
Aim iii) Identification of the genetic basis of the disease provides us with the true pathophysiologic cause of the disease. We will use this information to develop clinically relevant biomarkers for the diagnosis of disease and characterization of its activity.
Aim iv) Disease biomarkers and methods for their assessment and availability of suitable models will allow to test effects of existing therapies and search for new treatments: novel candidate molecules, innovative techniques, and biological treatments (e.g. use of recombinant enzymes, genetic manipulations or transplantation).
Aim v) Direct participation of the clinical researchers in the project will allow immediate translation of the results to clinical and laboratory diagnostic practice. Detailed characterization of the natural history of each disease will be employed in individual patient cohorts to define outcome measures suitable for monitoring of current clinical management or novel therapies in the future.