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

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.