Ophthalmologic disorders

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The database may not be exhaustive, please do not hesitate to contact us !

  • Leber Congenital Amaurosis (LCA)

    Leber Congenital Amaurosis (LCA)
    Genotype Phenotype

    • Cohorts

      > 700 patients

    • TNGS / WES / WGS*

      "Inherited Retinal Dystrophies" gene panel (212 genes)

    • Patient samples

      DNA

      Fibroblasts from LCA10 patients

    Targets

    • In vivo models

      Cep290 mouse models

    • Specific targets

      CEP290, CRB1, RPGRIP1, GUCY2D, RPE65, RDH12, etc.

    Therapeutics

    • Patents

      Methods for performing antisense oligonucleotide-mediated exon skipping in the retina of a subject in need thereof WO/2015/004133 


      Second patent (please, contact us)

    • Protocols/Technics

      Injection of naked 2'-O-Methyl-phosphorothioate (2'OMePS) antisense-oligonucleotides (AON) for LCA10 patients

    • Specific therapeutic approaches

      Antisense oligonucleotide therapy technology

       

    Clinical trials

    Other retinal dystrophies

    Rod-cone dystrophies including X-linked retinitis pigmentosa (XLRP)
    Genotype Phenotype

    • Cohorts

      300 patients

    • TNGS / WES / WGS*

      "Inherited Retinal Dystrophies" gene panel (212 genes)

    • Patient samples

      DNA

    Targets
    Therapeutics
    Clinical trials
    Cone-rod dystrophies
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Cone dystrophies
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Macular dystrophies

    Stargardt disease
    Genotype Phenotype

    • Cohorts

      300 patients

    • TNGS / WES / WGS*

      "Inherited Retinal Dystrophies" gene panel (212 genes)

    • Patient samples

      DNA

      Fibroblasts

    Targets

    • In vivo models

      Urine-derived Renal Epithelial Cells (UREC)

    • Specific targets

      ABCA4

    Therapeutics

    • Patents

      Methods for performing antisense oligonucleotide-mediated exon skipping in the retina of a subject in need thereof WO/2015/004133 


      Second patent (please, contact us)

    • Protocols/Technics

      Injection of naked 2'-O-Methyl-phosphorothioate (2'OMePS) antisense-oligonucleotides (AON) 

    • Specific therapeutic approaches

      Antisense oligonucleotide therapy technology

    Clinical trials
    Best disease
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • ALDH1A3 deficiency

    ALDH1A3 deficiency
    Genotype Phenotype

    • Cohorts

      Please, contact us

    • TNGS / WES / WGS*

      "Inherited Retinal Dystrophies" gene panel (212 genes)

    • Patient samples

      DNA

    Targets
    Therapeutics
    Clinical trials

    Persistent Fetal Vasculature (PFV)

    Persistent Fetal Vasculature (PFV)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Colobomas

    CHARGE syndrome (CHD7)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Cat Eye syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Other syndromic and non-syndromic colobomas
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Leber HON (LHON)

    Leber HON (LHON)
    Genotype Phenotype

    • Cohorts

      Please, contact us

    • TNGS / WES / WGS*

      "Inherited Retinal Dystrophies" gene panel (212 genes)

    • Patient samples

      DNA

    Targets
    Therapeutics
    Clinical trials

    Autosomal recessive ON (ARONs)

    Wolfram disease
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Others
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Autosomal Dominant ON (ADONs)

    Autosomal Dominant ON (ADONs)
    Genotype Phenotype

    • Cohorts

      Please, contact us

    • TNGS / WES / WGS*

      "Inherited Retinal Dystrophies" gene panel (212 genes)

    • Patient samples

      DNA

      Fibroblasts

    Targets

    • In vivo models

      Dnmt1l +/- mouse model

    • Specific targets

      DBMT1L

    Therapeutics
    Clinical trials

  • Achromatopsia
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    S-cone monochromatism
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Oligocone trichromacy
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • CSNB with normal fundus

    CSNB Type 1
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    CSNB Type 2
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    CSNB with abnormal fundus

    CSNB with abnormal fundus
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Axenfeld and Rieger abnormalities and syndromes

    Axenfeld and Rieger abnormalities and syndromes
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Peters abnormality and syndrome

    Peters abnormality and syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Aniridia

    Aniridia due to mutations in PAX6
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Gillespie syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    13q32.1 deletion syndrome congenital microcoria (MCOR)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    WAGR syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Isolated

    Isolated congenital and infantile cataracts
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Syndromic

    Lowe syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Cockayne syndrome and other disorders of DNA repair
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Cerebrotendinous xanthomatosis
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Optic Pathways Gliomas (OPG)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Retinoblastomas
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Familial exsudative vitreo-retinopathies
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Sickle cell disease
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Incontinentia pigmenti
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Neurofibromatosis type 1
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Tuberous sclerosis (Bourneville)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    von Hippel-Lindau disease
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Optic nerve hypoplasias

    Isolated
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Septo-optic dysplasia
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Morning glory disk abnormality

    Morning glory disk abnormality
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Optic nerve colobomas

    Optic nerve colobomas
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

  • Isolated

    Isolated congenital and infantile glaucomas
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

    Syndromic

    Anterior segment dysgenesis
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Sturge-Weber syndrome
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials

Contacts

  • Thibaut Perchet

    Thibaut PERCHET

    Business development manager

    • thibaut.perchet@institutimagine.org
    • +33 1 42 75 42 55

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