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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 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.

80

Between scientists and support functions, 80 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.

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.

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.

News

  • News
  • Publications
Event

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.

NGS.

21 December 2023

One challenge faced by scientists from the alternative RNA splicing field is to decode the cooperative or antagonistic effects of splicing factors (SFs) to understand and eventually predict splicing outcomes on a genome-wide scale. In this manuscript, we introduce SplicingLore, an open-access dat...

07 December 2023

Mutations in the gene lead to Duchenne muscular dystrophy, a severe X-linked neuromuscular disorder which manifests itself as young boys acquire motor functions. DMD is diagnosed after 2 to 4 years, but the absence of dystrophin has an impact before symptoms appear in patients, which poses a ser...

LGMDs.

16 January 2024

Glycogen storage disease type III (GSDIII) is a rare inborn error of metabolism affecting liver, skeletal muscle, and heart due to mutations of the AGL gene encoding for the glycogen debranching enzyme (GDE). No curative treatment exists for GSDIII. The 4.6 kb GDE cDNA represents the major techni...

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