Molecular Genetics Laboratory

Molekulargenetisches Labor

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Research Topics

A large proportion of ocular conditions and ocular disease in humans is governed or at least strongly influenced by genetic factors. In fact, the eye is amongst the organs that are most commonly afflicted by inherited disease. Our mission is "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".

The RetDis biobank and database

The Molecular Genetics Laboratory (MGL) at the Institute for Ophthalmic Research has been founded as early as 1991. One year later a biobank and patient database has been established, and we have collected DNA and files of patients and family members with inherited ocular diseases, with a strong focus on inherited retinal disorders, hereditary optic neuropathy and familial glaucoma.

Today the biobank holds more than 30.000 DNA samples of over 17,000 individuals with almost 12,000 patients of almost 10,000 independent families with inherited ocular diseases. These correspond to ~8,000 patients from ~6,000 families with inherited retinal dystrophies, >2,000 patients with various forms of optic nerve disease (optic atrophy and Leber's hereditary optic neuropathy), and >1100 families with hereditary glaucoma.