Molecular Genetics Laboratory

Introduction & Research Topics

Established in 1991, the Molecular Genetics Laboratory (MGL) at the Institute for Ophthalmic Research considers its mission "To uncover the genetic basis of inherited ocular disorders and to explain its clinical appearance and characteristics by constructing gene-to-function relationship at the molecular, cellular and physiological level".

Genetic factors play a significant role in determining ocular conditions and diseases in humans. Remarkably, the eye stands out as the organ most frequently impacted by hereditary diseases among all organs. With respect to our goals, we have established a biobank and patient database for inherited ocular conditions (RetDis Biobank and Database). Our extensive collection includes DNA samples and files from individuals and their family members affected by inherited ocular diseases, particularly concentrating on inherited retinal disorders, hereditary optic neuropathy, and familial glaucoma.

Today the biobank holds almost 33,000 DNA samples of >20,000 individuals with >14,000 patients of >12,000 independent families with inherited ocular diseases. These correspond to >10,000 patients from >8,400 families with inherited retinal dystrophies, >2,400 patients from >1,900 families with various forms of optic nerve disease (i.e., optic atrophy and Leber's hereditary optic neuropathy), and >13.000 patients from >1,100 families with hereditary glaucoma (last count Nov 2023). In recent years, we have contributed to important gene therapy trials, and are actively developing and testing therapeutic strategies to target pathogenic variants by genome editing.

Foto: Beate Armbruster / © Universitätsklinikum Tübingen