11

NOV

23

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 2023, 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.

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75

Between scientists and support functions, 75 people currently work at I-Stem.

Teams at the service of ambitious therapeutic objectives

Reasearch
teams

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.

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Triails
clinics

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.

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Technology
plateforms

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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News

  • News
  • Publications
Event

26 April 2023

90,839,067 euros for the Telethon 2022:

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.

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Motoneuron

15 November 2023

Nucleolar reorganization after cellular stress is orchestrated by SMN shuttling between nuclear compartments.

Spinal muscular atrophy is an autosomal recessive neuromuscular disease caused by mutations in the multifunctional protein Survival of Motor Neuron, or SMN. Within the nucleus, SMN localizes to Cajal bodies, which are associated with nucleoli, nuclear organelles dedicated to the first steps of ri...

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Motoneuron

11 November 2023

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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Neuroplasticity and Th.

21 October 2023

How do gravity alterations affect animal and human systems at a cellular/tissue level?

The present white paper concerns the indications and recommendations of the SciSpacE Science Community to make progress in filling the gaps of knowledge that prevent us from answering the question: "How Do Gravity Alterations Affect Animal and Human Systems at a Cellular/Tissue Level?" This is on...

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