Molecular Analysis of a Congenital Myasthenic Syndrome Due to a Pathogenic Variant Affecting the C-Terminus of ColQ.

Congenital Myasthenic Syndromes (CMSs) are rare inherited diseases of the neuromuscular junction characterized by muscle weakness. CMSs with acetylcholinesterase deficiency are due to pathogenic variants in COLQ, a collagen that anchors the enzyme at the synapse. The two COLQ N-terminal domains h...

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Institute for Stem cell Therapy and Exploration of Monogenic diseases

In 2024, advancing research on rare and ultra-rare monogenic diseases requires the mobilization of significant human and technological resources. Within I-Stem, we are all mobilized around this common objective.


Between scientists and support functions, 80 people currently work at I-Stem.

Teams at the service of ambitious therapeutic objectives


I-Stem brings together within its research teams the expertise and know-how of researchers, teacher-researchers, engineers and technicians. Retinopathies, genodermatoses, Limb-girdle muscular dystrophies, neuromuscular diseases & Myelinated fibers are part of our main scientific themes.


Clinical trials are a crucial step in the development of treatments for any pathology. I-Stem is the sponsor of several trials and supports others through partnerships.

Technology plateform

Excellent research requires state-of-the-art equipment. I-Stem is equipped with technological platforms allowing its research teams to optimize their fundamental, pre-clinical and clinical research projects.


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26 April 2023

Thank you to everyone: donors, volunteers mobilized throughout France and abroad, partners, personalities! Thanks to your unfailing mobilization on December 2 and 3, the Telethon 2022 raised 90,839,067 euros! This tremendous result - the best since 2016 - shows how much the French people are in solidarity with the struggle of families.


16 May 2024

Glycogen storage disease type III (GSDIII) is a rare metabolic disorder due to glycogen debranching enzyme (GDE) deficiency. Reduced GDE activity leads to pathological glycogen accumulation responsible for impaired hepatic metabolism and muscle weakness. To date, there is no curative treatment fo...


16 April 2024

The retinal pigment epithelium (RPE), a multifunctional cell monolayer located at the back of the eye, plays a crucial role in the survival and homeostasis of photoreceptors. Dysfunction or death of RPE cells leads to retinal degeneration and subsequent vision loss, such as in Age-related macular...


21 March 2024

The cellular mechanisms underlying axonal morphogenesis are essential to the formation of functional neuronal networks. We previously identified the autism-linked kinase NUAK1 as a central regulator of axon branching through the control of mitochondria trafficking. However, (1) the relationship b...

I-Stem is a member of the Institute of Biotherapies for Rare Diseases created by the AFM - Telethon