Nephrology
Teams
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Rémi Salomon
>> Reference center for rare diseases
MARHEA - Hereditary kidney diseases of the child and the adult -
Imagine's Offers
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Renal hypodysplasiaGenotype Phenotype
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Cohorts
CAKUT (Congenital Anomalies of the Kidney and the Urinary Tract)
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TNGS / WES / WGS*
CAKUT gene panel
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Patient samples
DNA
TargetsTherapeuticsClinical trialsRenal Cystic DysplasiaGenotype Phenotype-
Cohorts
CAKUT cohort
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Patient samples
DNA
TargetsTherapeuticsClinical trials -
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Hereditary podocytopathies (HP) including Steroid-resistant nephrotic syndrome (SRNS)Genotype Phenotype
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Cohorts
> 2500 patients (SRNS)
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TNGS / WES / WGS*
SRNS gene panel
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Patient samples
DNA
Targets-
In vitro models
iPS cells
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In vivo models
R140Q podocin (KI mouse model)
Nphs2Flox/Flox (inducible KO mouse model)
TherapeuticsClinical trialsAlport SyndromeGenotype Phenotype-
Cohorts
> 100 families with Alport syndrome
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TNGS / WES / WGS*
"RENOME" gene panel
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Patient samples
DNA
Fibroblasts
TargetsTherapeuticsClinical trials -
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Nephronophthisis (NPH)Genotype Phenotype
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Cohorts
> 1,500 patients with NPH
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TNGS / WES / WGS*
CAKUT gene panel or CILIOME gene panel (for ciliopathies)
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Patient samples
DNA
Targets-
In vitro models
Immortalized Urine-derived Renal Epithelial cells
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In vivo models
Zebrafish models - ongoing
Mouse models - ongoing
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Protocols/Technics
Single cell analysis from urines
Renal organoïdes from iPS cells from patients
Tridimentional cultures of spheres
TherapeuticsClinical trialsPolycystic kidney diseaseGenotype PhenotypeTargetsTherapeuticsClinical trials -
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CystinosisGenotype Phenotype
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Cohorts
> 150 families
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Patient samples
DNA
Targets-
In vitro models
iPS cells
Urinary renal epithelial cells (UREC)
Knock-in HEK293 cells with mutations from patients (CRISPR)
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In vivo models
Ctns KO mouse model
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Specific targets
CTNS
TherapeuticsClinical trialsTubular overload due to glomerular injuryGenotype Phenotype-
TNGS / WES / WGS*
"RENOME" gene panel
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Patient samples
DNA
Targets-
In vivo models
Mouse model (please contact us)
TherapeuticsClinical trials -
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CystinosisGenotype Phenotype
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Cohorts
> 150 familles
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Patient samples
DNA
Targets-
In vitro models
iPSC
Urinary renal epithelial cells (UREC)
Knock-in HEK293 cells with mutations from patients using CRISPR/Cas9
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In vivo models
Ctns KO mouse model
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Specific targets
CTNS
TherapeuticsClinical trialsFabry diseaseGenotype Phenotype-
Cohorts
Please contact us
TargetsTherapeuticsClinical trialsCystinuriaGenotype Phenotype-
Cohorts
Please contact us
TargetsTherapeuticsClinical trialsProteinuric kidney diseaseGenotype Phenotype-
Cohorts
Cohort (please contact us)
TargetsTherapeuticsClinical trials -
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Chronic Tubulo-Interstitial NephropathiesGenotype Phenotype
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Cohorts
Please contact us
TargetsTherapeuticsClinical trials -
Contacts
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Thibaut PERCHET
Business development manager
- thibaut.perchet@institutimagine.org
