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Imagine's Offers

The database may not be exhaustive, please do not hesitate to contact us !
  • Malformation of cortical development

    Tubulinopathies
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Dyneinopathies
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Lissencephaly - Agyria Pachygyria syndromes
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Megalencephalies
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Microcephalies
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Polymicrogyria
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Heterotopia
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Other rare cortical malformations
    Genotype Phenotype
    • Cohorts

      Please, contact us

    • Patient samples

      Please, contact us

    Targets
    • In vitro models

      Please, contact us

    • In vivo models

      Please, contact us

    • Specific targets

      Please, contact us

    Therapeutics
    Clinical trials

    Neurodevelopmental disorders

    Rett syndrome
    Genotype Phenotype
    • Cohorts

      > 200 patients

    Targets
    • Specific targets

      MECP2

    Therapeutics
    Clinical trials
    FOXG1 syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    • Specific targets

      FOXG1

    Therapeutics
    Clinical trials
    CDKL5 deficient disorders
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    • In vivo models

      CDKL5

    Therapeutics
    Clinical trials
    Angelman syndrome
    Genotype Phenotype
    • Cohorts

      > 50 patients

    Targets
    Therapeutics
    Clinical trials
    Autism spectrum disorders
    Genotype Phenotype
    • Cohorts

      > 300 patients

    Targets
    Therapeutics
    • Protocols/Technics

      Transcranial magnetic stimulation

    Clinical trials
    Non-syndromic intellectual disabilities
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Other rare Developmental Epileptic Encephalopathies (DEEs)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials

    Cerebellar malformation

    Early-onset cerebellar atrophy
    Genotype Phenotype
    • Cohorts

      > 40 patients

    • TNGS / WES / WGS*

      TNGS and WES 

    • Patient samples

      DNA

    Targets
    • Specific targets

      CACNA1G, other genes

    Therapeutics
    Clinical trials
    Pontocerebellar hypoplasie
    Genotype Phenotype
    • TNGS / WES / WGS*

      TNGS and WES 

    Targets
    • In vitro models

      Brain organoïds

    Therapeutics
    Clinical trials

    Dysphasies

    Dysphasies
    Genotype Phenotype
    • Cohorts

      > 15 patients

    Targets
    Therapeutics
    Clinical trials
  • Joubert syndrome (JS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Meckel syndrome (MKS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Hydrolethalus syndrome (HLS)
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Corpus Callosum malformations
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
    Malformations of cortical development
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
  • Dystonia and movement disorders
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
  • Neurodegeneration with brain iron accumulation (NBIA)
    Genotype Phenotype
    • Cohorts

      10 pediatric and adult patients

    • TNGS / WES / WGS*

      "Mitome" gene panel for mitochondrial diseases

    • Patient samples

      Fibroblasts

    Targets
    • Specific targets

      CRAT, REPS1, etc.

    Therapeutics
    • Specific biomarkers

      Please, contact us

    • Patents

      Methods and pharmaceutical compositions for the treatment of neurodegeneration with brain iron accumulation (WO2018115012)


      Second patent (please, contact us)

    • Specific therapeutic approaches

      Repurposing

    Clinical trials
    Friedreich ataxia
    Genotype Phenotype
    • Cohorts

      > 200 pediatric and adult patients 

    • Patient samples

      Fibroblasts, DNA

    Targets
    • Specific targets

      FXN

    Therapeutics
    • Specific biomarkers

      Please, contact us

    • Patents

      Methods and pharmaceutical compositions for the treatment of neurodegeneration with brain iron accumulation (WO2018115012)


      Second patent (please, contact us)

    • Specific therapeutic approaches

      Gene therapy

      Repurposing

    Clinical trials
    Amyotrophic Lateral Sclerosis
    Genotype Phenotype
    Targets
    • In vivo models

      KO and KI zebrafish models for C9orf72, TDP-43, Fus, p62, TBK1

    • Protocols/Technics

      Phenotypic characterization and drug screening platform for zebrafish (live imaging, in vivo electrophysiology recordings, and drug screening on zebrafish models)

    • Specific targets

      C9orf72, TDP-43, Fus, p62, TBK1

    Therapeutics
    • Specific therapeutic approaches

      Small molecules

      Innovative treatment (confidential)

    Clinical trials
  • STING-associated vasculopathy with onset in infancy (SAVI)
    Genotype Phenotype
    • Cohorts

      Mainly pediatric

      20

    • TNGS / WES / WGS*

      Interferonopathies

    • Patient samples

      DNA

      RNA

      Serum/plasma

      CSF

      PBMCs

      Fibroblasts

      LCLs

    Targets
    • In vitro models

      B-EBV-transformed B lymphocytes

      SV40 transformed STING-patient fibroblasts

      iPS cells

      IFN beta promoter-reporter (GFP/RFP/Luc) cell lines

    • In vivo models

      STING-KI mice (V154M CRISPR/Cas9)

    • Protocols/Technics

      IFNa IFNb dosage in patients' cells supernatants, IFN signature

      pSTAT3 and STING intracellular staining

      pTBK1 elisa test

      Apoptosis evaluation

      T-reg suppression analysis

      Phenotyping of T-reg CD4-/CD8-

      Single-cell transcriptomics

      CITE-seq protocol

      Network inference analysis

    • Specific targets

      TMEM173

    Therapeutics
    Clinical trials
    Aicardi-Goutieres syndrome (AGS)
    Genotype Phenotype
    • Cohorts

      Mainly pediatric

      >100

    • TNGS / WES / WGS*

      Interferonopathies

    • Patient samples

      DNA

      RNA

      Serum/plasma

      CSF

      PBMCs

      Fibroblasts

      LCLs

    Targets
    • In vitro models

      HEK

      HELA

      THP1

    • Protocols/Technics

      Singe-cell transcriptomics

      CITE-seq protocol

      Network inference analysis

    • Specific targets

      TREX1

      RNASEH2A

      RNASEH2B

      RNASEH2C

    Therapeutics
    Clinical trials
    • NCT

      NCT02363452: phase II Pilot Clinical Trial of Reverse Transcriptase Inhibitors in Children With Aicardi-Goutières Syndrome (AGS)

  • Congenital disorder of glycosylation
    Genotype Phenotype
    Targets
    • In vivo models

      Cerebellum specific Srd5a3 KO

    • Specific targets

      SRD5A3 

    Therapeutics
    Clinical trials
    Inositol phosphate metabolism and very early-onset neurodegeneration
    Genotype Phenotype
    Targets
    Therapeutics
    Clinical trials
  • Early onset epileptic encephalopathies (EOEE)
    Genotype Phenotype
    • Cohorts

      > 100 patients

    Targets
    Therapeutics
    Clinical trials
    Epilepsies with migrating focal seizures in infancy
    Genotype Phenotype
    • Cohorts

      > 15 patients

    Targets
    Therapeutics
    Clinical trials
    Infantile spasms syndrome (West syndrome)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Dravet syndrome
    Genotype Phenotype
    • Cohorts

      > 120 patients

    Targets
    Therapeutics
    Clinical trials
    Myoclonic Astatic epilepsy
    Genotype Phenotype
    • Cohorts

      > 50 patients

    Targets
    Therapeutics
    Clinical trials
    Lennox Gastaut
    Genotype Phenotype
    • Cohorts

      > 30 patients

    Targets
    Therapeutics
    Clinical trials
    Rasmussen encephalitis
    Genotype Phenotype
    • Cohorts

      > 15 patients

    Targets
    Therapeutics
    Clinical trials
    Auto-immune encephalitis
    Genotype Phenotype
    • Cohorts

      > 50 patients

    Targets
    Therapeutics
    Clinical trials
    Progressive myoclonic epilepsies
    Genotype Phenotype
    • Cohorts

      > 15 patients

    Targets
    Therapeutics
    Clinical trials
    Fires
    Genotype Phenotype
    • Cohorts

      > 10 patients

    Targets
    Therapeutics
    Clinical trials
    Tuberous sclerosis complex (TSC)
    Genotype Phenotype
    • Cohorts

      > 120 patients

    Targets
    Therapeutics
    Clinical trials
    Sturge Weber Syndrome
    Genotype Phenotype
    • Cohorts

      > 50 patients

    Targets
    Therapeutics
    Clinical trials
    Cortical dysplasia
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    CDKL5 deficient disorders
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    FOXG1 syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Angelman syndrome
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Ring chromosome 20
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    KCNB1 encephalopathies
    Genotype Phenotype
    • Cohorts

      > 35 patients

    Targets
    Therapeutics
    Clinical trials
  • Spina bifida (myelomeningocele)
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
    Other dysraphisms
    Genotype Phenotype
    • Cohorts

      Please, contact us

    Targets
    Therapeutics
    Clinical trials
  • Brain MRI analysis

    Neuroimaging allows to explore the anatomy of the brain. In recent decades, the accessibility of MR scanners and rapid advances in the development of MRI sequences have provided a large amount of data. Analyzing these data is an important and challenging step.

     

    Here is an overview of the methods used in the Image@Imagine team:

    >> Segmentation of brain structures or tissues and cortex parcellation with 3DT1 sequences using Statistical Parametric Mapping 12 (SPM12), Computational Anatomy Toolbox 12 (CAT12) and FreeSurfer software,

    >> Images registration and normalization for statistical comparison between groups or population with 3D T1-weigthed, ASL and T2-weighted images using SPM12 and CAT12,

    >> Images preprocessing, statistical tests using general linear model (GLM) and independent component analysis (ICA) with fMRI data using DPABI, SPM12 and FSL software,

    >> Images preprocessing, fractional anisotropy measurement and tractography analysis with DTI data using FSL and TBSS software.

    Eye-tracking

    The eye-tracking research platform is dedicated to investigating social perception in children and adults with typical and atypical development. 

    Using a Tobii T120 and Tobi X20 equipment, this non-invasive method provides objective measures of gaze pattern in a social context.

     

    Ongoing project (Image@Imagine): Investigate the main steps of the development of typical social processes out of the scope of pathology.

    The first step of this research consisted on creating highly sensitive and appropriate ecological stimuli. The main eye-tracking paradigms are based on visualization of social interaction scenes (a set of 10 sec movie fragments displaying peer to peer social interaction) and a preference paradigm, displaying social and non-social movement simultaneously.

    Using this eye-tracking protocol, it is possible to perform social perception assessment in wide sample of children and adults, with typical development and with different developmental pathologies, creating a large data base.

    Transcranial magnetic stimulation

    Transcranial magnetic stimulation (TMS) is a non-invasive neuromodulation technique that allows to transient interfere with neuronal activity within a target region, with measurable behavioural effects.

     

    Onjoing project (Image@Imagine): Use of TMS as a new potential therapeutic intervention in autism spectrum disorders

    The project consists in investigating the use of TMS to modulate the neural activity of the superior temporal sulcus in patients with autism spectrum disorders aiming to interfere with eye gaze processing and improve social behavior.

Contacts

  • Marion Pilorge

    Marion Pilorge

    Business development manager

    • marion.pilorge@institutimagine.org
    • +33 1 42 75 45 65

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