Projects
Project Leader: Prof. Dr. Martin Biel
USH1B syndrome is severe deafness-blindness disorders caused by loss-of-function mutations in the MYO7A gene. MYO7A encodes are large motor protein involved in the ciliary transport of opsins in photoreceptors and the transport of melanosomes and phagosomes in retinal pigment epithelium cells.
In this project we are developing USH1B gene therapies based on mRNA trans-splicing and dCas9-VPR-mediated gene transactivation.
Project Leader: Prof. Dr. Elivir Becirovic
Usher syndrome (USH) is characterized by retinal defects due to retinitis pigmentosa and congenital or progressive deafness with occasional vestibular dysfunction. Mutations in the USH2A gene are by far the most common cause of USH syndrome, but there is currently no therapy available. A key reason that complicates the development of therapeutic approaches for USH2A is the fact that the USH2A gene far exceeds the packaging capacity of the gold standard vectors (adeno-associated vectors, AAVs).Project Leader: Prof. Dr. Friedhelm Serwane, Prof. Dr Thomas Klopstock
Organoids grown from stem cells replicate human organs, enabling disease modeling and therapy testing. Retinal organoids mimic the human retina, helping to study diseases like LHON, which causes vision loss. LHON results from mitochondrial DNA mutations, primarily affecting retinal ganglion cells with high energy demands. Our team, involved in LHON clinical studies, is working towards establishing an organoid model to study mechanisms and test therapies. Combining neural imaging and gene therapy expertise, we aim to advance LHON treatment and potentially improve patient outcomes.
Project Leader: Prof. Dr. Stylianos Michalakis
Age-related macular degeneration is a leading cause of blindness in the elderly. Current treatments require frequent injections, which are burdensome, risky, and unable to fully prevent eye damage.
We are developing a gene therapy with a novel target, aiming to provide effective treatment with a single injection.
Project Leader: Prof. Dr. Nikolai Klymiuk
Therapeutic gene editing is a ground-breaking new perspective of otherwise untreatable monogenic retinal disorders. The possibility to repair a genetic defect directly at the causative genomic level avoids numerous adverse side effects of conventional gene therapy. In particular, the lack of regenerative capacity in the retina provides the opportunity of one-time for life-time treatment.
Within this project, we aim at testing the perspectives of therapeutic gene editing in a large animal model for retinitis pigmentosa.
Project leader: Prof. Dr. Antje Grosche, Dr Stefanie Hauck
Diabetic retinopathy is a leading cause of visual impairment in adults and, unlike other diseases such as glaucoma, is on the rise worldwide. Current treatments require frequent injections, which are associated with significant unwarranted side effects.
We are developing a gene therapy that targets the metabolism of retinal glial cells, the core of the retinal neurovascular unit, with the goal of providing an effective treatment with the major advantage of gene therapy that it could potentially be a one-and-done approach.
Project Leader: Prof. Dr. Susanne Koch
Retinitis pigmentosa (RP) is a progressive retinal degenerative disease manifesting in adolescence or early adulthood and the most common cause of inherited blindness. The photoreceptor pathology also drives changes in the neighboring retinal pigment epithelium (RPE), which have not been well characterized. We aim to identify which aspects of RPE structural, functional, and metabolic remodeling in RP mouse models are rescued by gene therapy at early, mid, and late disease stages.
Project Leader: Prof. Dr. Nikolaos Koutsouleris, Dr. Tingying Peng, Dr. med. Benedikt Schworm
Currently, visual performance is measured subjectively. Therefore, the clinical benefit of therapies that treat visual pathologies cannot be determined objectively.
This project aims to solve this problem by establishing novel outcome measures of vision-dependent brain function using modern techniques of ophthalmology, neuroimaging, and machine learning.
Project leader: Prof. Dr. Siegfried Priglinger, Prof. Dr. Fabian Theis
Age-related macular degeneration (AMD), a leading cause of visual loss, is significantly impacted by genetic factors. While initial leads for therapeutic targets and pharmacogenomic analyses have been identified, their effect on disease progression and response to treatment remain largely unknown.
Here, we use machine learning models to integrate genetic, imaging, and clinical data. Our goal is to establish biomarkers to improve the diagnosis, treatment, and individual outcomes of patients with AMD.