The Lab for Retinal Gene Therapy

Our research group deals with genetic diagnostics, molecular causes and therapy of inherited retinal dystrophies (IRD). These comprise a heterogeneous group of diseases that lead to visual impairment and even total blindness. Up to six million people worldwide are affected. The various forms of IRD differ in their clinical presentation, genetic causes or underlying molecular mechanisms. With the exception of a rare form (Leber's congenital amaurosis, LCA), there are currently no therapies for these diseases. In view of the enormous suffering of those affected, but also of the societal costs associated with high number of patients, there is an unmet medical need for the development of suitable therapeutic approaches. To achieve this goal, a reliable molecular genetic diagnosis, good knowledge of the molecular causes of disease development, and novel therapeutic tools are neccessary.

To achieve these goals, we are using a number of state-of-art methods and tools that we are evaluating in vitro and in mouse model of IRD. These include amongst others the design and further development of adeno-associated viral (AAV) vectors, genome editing using CRISPR/Cas, functional and imaging methods to study retinal morphology and function (electroretinography, optical coherence tomography, fundus imaging etc.) as well as experiments to test vision-guided behavior in mouse models.