Project Details
Projekt
KFO 134: Hereditary Retinal Degenerations: Clinical Aspects, Genetics and Animal Models
Subject Area
Medicine
Term
from 2005 to 2011
Project identifier
Deutsche Forschungsgemeinschaft (DFG) - Project number 12938288
Hereditary retinal dystrophies are a clinical and genetically highly heterogeneous group of disorders leading to severe visual function loss and even to legal blindness. Alone in Germany, over 30 000 patients suffer from a hereditary retinal disorder and no prevention or therapy can be offered. Especially disorders that primarily affect the cone photoreceptor system (cone and cone-rod dystrophies) are poorly investigated compared to the rod dystrophies (i.e. retinitis pigmentosa), although these disorders primarily affect the central retina (macula), thereby leading to severe visual impairment and therefore disturbing our most important visual sense. Information is missing particularly concerning the clinical differentiation and the phenotypic description, as well as the genetic causes. The largest gap in our understanding of these disorders and the retinal dystrophies in general affects the knowledge of the pathomechanisms between genetic cause and clinical phenotype and its expression.
The major aim of the Clinical Research Unit is an interdisciplinary approach to improve and deepen the knowledge of the epidemiology, causes and clinical outcome of hereditary retinal dystrophies and its classification. By studying homologous animal models on a functional, histological and molecular level, we want to elucidate the pathology of these disorders and the underlying molecular processes and signalling pathways. Additionally we want to define and assess new gene- and cell-based intervention procedures as potential therapeutic approaches and strategies using animal models.
The major aim of the Clinical Research Unit is an interdisciplinary approach to improve and deepen the knowledge of the epidemiology, causes and clinical outcome of hereditary retinal dystrophies and its classification. By studying homologous animal models on a functional, histological and molecular level, we want to elucidate the pathology of these disorders and the underlying molecular processes and signalling pathways. Additionally we want to define and assess new gene- and cell-based intervention procedures as potential therapeutic approaches and strategies using animal models.
DFG Programme
Clinical Research Units
Projects
- Entwicklung neuer Tiermodelle zur Analyse erblicher Netzhauterkrankungen (Applicant Ruth, Peter )
- Evaluation der Wirksamkeit lokaler Gentherapie bei CNG Kanal-difizienten Mausmodellen für erbliche Netzhauterkrankungen (Applicant Seeliger, Mathias )
- Evaluation der Wirksamkeit lokaler Gentherapie bei CNG Kanal-difizienten Mausmodellen für erbliche Netzhauterkrankungen (Applicant Biel, Martin )
- Funktion und Morphologie der Netzhaut bei Mausmodellen für erbliche Zapfendystrophien (Applicant Seeliger, Mathias )
- Genomics-Analyse erblicher Netzhauterkrankungen (Applicant Bonin, Michael )
- Koordination - Management - Training - Services (Applicant Zrenner, Eberhart )
- Molekulare Genetik hereditärer Zapfen- und Zapfen-Stäbchen-Dystrophien (Applicant Kohl, Susanne )
- Phänotypisierung von Patienten mit Zapfen- und Zapfen-Stäbchen-Dystrophie: Erweiterte funktionelle und morphologische Diagnostik (Applicant Zrenner, Eberhart )
- Proteomanalyse von Tiermodellen für erbliche Erkrankungen (Applicant Nordheim, Alfred )
- Vergleichende Studie von Zelltodmechanismen in rd1 und Cpfl1 Photorezeptoren (Applicant Paquet-Durand, Francois )
Spokesperson
Professor Dr. Eberhart Zrenner
