Molecular Genetics Laboratory

Molekulargenetisches Labor

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Research Topics

A large proportion of ocular conditions and ocular diseases in humans is governed or at least strongly influenced by genetic factors. In fact, among all organs, the eye is the one most affected by hereditary diseases. 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 >30.000 DNA samples of >17,000 individuals with >12,000 patients of ~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.