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I-Stem – Institute for Stem cell Therapy and Exploration of Monogenic diseases

I-STEM INSERM/UEVE UMR 861 CRCT, 28 rue Henri Desbruères
Phone : +33 1 69 90 85 17
Email :

Manager : MARTINAT Cécile
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I-Stem - laboratoire génopolitain I-Stem - laboratoire génopolitain

#Genomics / Postgenomics

  • Cell therapy
  • Disease modeling
  • Pharmacology
  • Stem cells
  • Monogenic diseases


AFM TéléthonUEVE - Tutelle laboratoire génopolitainInserm - tutelle de laboratoires génopolitains

Field of Activity

Postgenomics and biotherapies of monogenic diseases.

I-STEM can be conceptualized with three key terms: “stem cells”, “therapeutics” and “monogenic diseases”. The institute evaluates the therapeutic potential of all types of stem cells in the setting of monogenic diseases. Within this mission, I-STEM explores more particularly substitutive cellular therapies for degenerative diseases on one hand and the use of pathological stem cell lines as targets for the screening of potentially therapeutic compounds on the other.

The teams at I-Stem develop research programs employing embryonic stem cells and induced pluripotent stem cells with the aim of creating therapeutics for rare genetic diseases.

Three major research orientations are forwarded in parallel:

  • Regenerative medicine involves the production and differentiation of pluripotent stem cells, thereafter implanted in patients to regenerate damaged tissues.
    Three programs are underway.
    – The first, a collaborative effort with the AP-HP and currently under review at ANSM, looks to develop cutaneous grafts to treat sickle-cell anemia-associated skin ulcers.
    – The second is being carried out in partnership with teams from the Institut de la Vision with the objective of treating retinitis pigmentosa through the implantation of retinal pigment epithelial cells.
    – And the third, in collaboration with MirCen, is targeting the implantation of intracerebral nerve cells to treat Huntington’s disease.
  • Pathological modeling involves the study of cells derived from pluripotent stem cell lines sourced from diseased patients or embryos.
    I-Stem focuses on pathologies affecting muscle (type 1 myotonic dystrophy, Duchenne muscular dystrophy) the central nervous system (infantile spinal muscular atrophy, genetic autism, Lesch–Nyhan syndrome, Wolfram syndrome) or other tissues (neurofibromatosis, familial adenomatous polyposis, progeria).
  •  Identification of pharmacological compounds with potential for development as treatments for these pathologies.
    This branch of research, performed with the support of major technological platforms that enable high volume cell production and medium and high throughput drug screening, has already led to the identification of numerous compounds having the potential to counter pathological mechanisms. Work done on cells donated by patients with type 1 myotonic dystrophy, Huntington’s disease, Lesch–Nyhan syndrome or progeria has already been fruitful. A clinical trial to evaluate the therapeutic efficacy of a compound identified in the setting of type 1 myotonic dystrophy is underway, in collaboration with the AP-HP.

    Maladies neurodégénératives (Maladie de Huntington) dirigé par Anselme PERRIER

    Maladies du motoneurone (Maladie de Steinert) dirigé par Cécile MARTINAT

    Myopathie de Duchenne dirigé par Christelle MONVILLE

    Génodermatoses dirigé par Christine BALDESCHI

    Biothérapie des lésions neuro-vasculaires dirigé par Brigitte ONTENIENTE


Genopole’s laboratories

#Genomics / Postgenomics

In same field

LBEPS - Laboratoire genopolitain


LBEPS is a laboratory dedicated to the physiology and biology of exercise implementing a translation strategy from the physiology of humans in motion to the study of cellular, molecular, genetic and epigenetic responses to exercise and recovery

Inserm - Logo


ART-TG is a pre-GMP stage R&D laboratory aiming to bridge a gap between research and clinical or industrial applications. It has pharmaceutical expertise for product development and product manufacturing, specifically for genomic therapy approaches.

Genethon Laboratory


Gene therapy for rare genetic diseases. Research, preclinical and clinical development of gene therapies for neuromuscular and other rare genetic diseases.



Research at LGRK focuses on the homeostasis, regenerative potential and radiosensitivity of human epidermal stem cells.

Integrare - Genopole's Laboratory


The Integrare research unit aims to develop effective and safe gene therapies for rare genetic diseases such as neuromuscular disorders, metabolic diseases or blood/immune disorders

Genoscope - CNS - Genopole's laboratory

Genoscope – CNS

Genomics and postgenomics of biodiversity – Metagenomics of microorganisms from the environment.

Genoscope - CNS - Genopole's laboratory

Genomics Metabolics

The Metabolic Genomics UMR is the fundamental research structure of Genoscope – National Sequencing Center – Study of the chemistry and the diversity of organisms. Genomics of eukaryotes, prokaryotes and metagenomes.

GenHotel European Research Laboratory For Rheumatoid Arthritis - Genopole's laboratory


Genomics – Genetic Statistics Research on genetic susceptibility to complex diseases through genomic analyses with a focus on rheumatoid arthritis.



Plant genomics. Detection, analysis and management of plant species polymorphism.

CNRGH / CEA / François Jacob Institut


The CNRGH is a national-level center whose mission is to provide high throughput genotyping and sequencing services with the objective of optimizing genetic and genomic research for human diseases.

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With the support from
Région île de France