3 projets européens trouvés
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TERMINÉ
Augmenting PBGD expression in the liver as a Novel Gene therapy for Acute Intermittent Porphyria (AIPGENE)
Date du début: 1 janv. 2011, Date de fin: 31 oct. 2014,
Acute intermittent porphyria (AIP) is a rare genetic disease in which mutations in the porphobilinogen deaminase (PBGD) gene produce insufficient activity of a protein necessary for heme synthesis. This leads to an accumulation of toxic intermediates resulting in a wide variety of problems including acute, severe abdominal pains, psychiatric and neurological disorders, and muscular weakness. Acute ...
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8
Participants partenaires
TERMINÉ
Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher) (TREATRUSH)
Date du début: 1 févr. 2010, Date de fin: 31 janv. 2014,
Usher syndrome (USH) is the most frequent hereditary cause of deafness associated to blindness. It is a rare disease, affecting 1 in every 10.000 individuals, with an autosomal recessive monogenic inheritance. Deafness is congenital while the retinitis pigmentosa is not detected before the age of 8 to 10. These patients suffer from a dreadful disability as their two major senses are impaired. Impo ...
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13
Participants partenaires
TERMINÉ
Restoring Mueller glia cell – photoreceptor interactions with Crumbs (CRUMBS IN SIGHT)
Date du début: 1 avr. 2008, Date de fin: 31 mai 2012,
"Mutations in the Crumbs homologue 1 (CRB1) gene cause photoreceptor degeneration resulting in progressive retinitis pigmentosa (RP) or Leber congenital amaurosis (LCA), which both currently are untreatable blinding diseases. CRB1 is localized in Mueller glia cells at a subapical region (SAR) adjacent to adherens junctions between Mueller glia cells and photoreceptors. Loss of CRB1 function result ...
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