• Defining the genetic cause of inherited ocular disorders.
• Deciphering the genetic basis of Blue cone monochromatism.
• Investigating the molecular, cellular and pathophysiological basis of inherited ocular disorders (i.e. inherited retinal dystrophies and optic neuropathies).
• Bringing cure to patients with inherited retinal or optic nerve disease using antisense-oligonucleotide treatment, CRISPR/Cas mediated genome editing and gene augmentation therapy.

limits2vision is driven by a unique team of experts in retinal neurobiology, physiology, pathology, metabolism, and genetics, as well as specialists for computational neuroscience and machine learning.

Our Project: DE-1 – Krebs cycle aconitase deficiency in inherited retinal ganglion cell dysfunction: Functional validation of ACO2 variants in patients with optic atrophy and their metabolic impact

Mutations in ACO2 can cause autosomal dominant optic atrophy or autosomal recessive optic atrophy with retinal dystrophy. In this project we aim to characterize so-called variants of uncertain significance. Variants predicted to result in missplicing are analyzed via minigene assays to define whether or not they need to be considered pathogenic. In addition, missense and late nonsense variants will be functionally characterized via complementation assays using Δaco yeast strains.

For further details to this project and the International Research Training Program, see limits2vision.net/projects/s/#tab-lila

The central goal of the RD TREAT project is to provide clinical proof of concept for effective gene therapeutic, as well as the pharmacological treatment options in the treatment of PDE6A-linked retinopathies and related disorders. For further info see Link: www.eye-tuebingen.de/rd-treat

This Marie Sklodowska-Curie Programm is an European Training Program to Understand, Diagnose and Treat Autosomal Dominant Retinal Diseases Link: https://www.progret.eu/

Our Project: Allele-specific, mutation-independent rescue of dominant negative acting IRD mutations by single gRNA-Cas variant genome editing 

Many autosomal dominant diseases are caused by dominant-negative effects of the mutant protein. In this PhD project we try to develop strategies to target dominant-negative acting mutations in RHO which lead to Retinitis pigmentosa. The RHO gene encodes Rhodopsin, the light-sensitive pigment in rod photoreceptors. We investigate whether Base Editing or Prime Editing can be used to reduce or ablate the expression of the mutant RHO allele by targeting common SNPs (single nucleotide polymorphisms) in cis with the various different RHO mutations.

For more detail see: https://www.progret.eu/dc9.html

Our Project: Inducible CRISPR gene editing systems for pathogenic USH2A mutations

Mutations in the USH2A gene are a common cause of autosomal recessive Retinitis pigmentosa and Usher syndrome. A considerable fraction of mutations results in missplicing. This PhD project aims to develop therapeutic strategies for the correction of such mutation induced splicing defects via genome editing strategies.

For details see: https://hector-fellow-academy.de/promotionsprojekte/induzierbare-crispr-gen-editierung-fuer-pathogene-ush2a-mutationen/

We offer free genetic testing in a research context for X-linked Blue cone monochromatism.

For more information see: https://www.blueconemonochromacy.org/no-cost-dna-test/