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Research fields
Team 01:
Genetics and therapy of retinal blindness
Head: Christian
Hamel, DR2
Our goal is to identify genes responsible for inherited retinal dystrophies and to set up therapeutic strategies. We study dystrophies primarily involving the retinal pigment epithelium (RPE) and the retinal ganglion cells (RGC), since they often are poorly characterized and, because of their frequency and/or severity, are important for therapeutic prospects. Because of its required ophthalmologic investigations and of its potential improvement of diagnosis and treatment, this research crosslinks laboratories and clinics. |
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1 Genetics and therapy
of RPE defects
1.1 The RPE65 protein is at a key step in the vitamin
A metabolism. Its mutations cause childhood and Briard dog
blindness: (1) using the two hybrid system we have found RPE65
protein partners. We are now characterizing their functions
and we search for mutations in retinal dystrophies.
1.2 We perform screening of genes of the visual cycle (RPE65, LRAT, RLBP1, RDH5, RDH10, RGR, RRH, IRPB) in a panel of patient with various types of retinal dystrophies. Phenotypes of patients with mutations in RPE65 and LRAT are characterize to prepare gene therapy.
2 Inherited Optic Neuropathies and Mitochondrial
Disorders
From the eye to the brain: pathologies of the optic nerve.
- functional characterization of genes involved in ION
- retinal ganglion cells physiology
- mouse models for ION diseases
- ION patient recruitment and ophthalmologic and genetic
diagnosis.
3 Genetics of retinitis pigmentosa
By linkage analysis of large families affected with this blinding disease involving photoreceptors and RPE, we are searching for novel responsible genes.
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