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Promote research on orphan diseases

CERMO-FC aim to develop and deepen knowledge about orphan diseases, and to prepare the next generation in this field through education and training.

Thus, the center supports the development of collaborative research projects through grant competitions, and each year promotes the research of a dozen master or doctoral students through scholarships. By supporting its researchers and student members, CERMO-FC wishes to offer them support to obtaining large-scale funding, promoting excellence and success of major scientific breakthroughs in the field of orphan diseases in biomedical and biopharmaceutical research.

CERMO-FC research projects

Study of the pathogenic and neurodevelopmental mechanisms of CANVAS using patient-derived mini-cerebella.

SLC18A2⁺ intermediate glial state and control of postnatal enteric nervous system maturation in a model of Waardenburg-Shah syndrome type IV.

Identification of pathogenic variants in the BLOC1S2 gene associated with neurodevelopmental disorders

Protective and adaptive role of ARB2A in developmental disorders and neurodegeneration: a study of cellular compensatory mechanisms.

The G6PC–SLC37A4 Axis, Glycogen Storage, and Stress Adaptations: A Bridge Between Rare Glycogen Storage Diseases and the Aggressiveness of Grade IV Glioblastoma

Targeting muscle stem cells for the treatment of oculopharyngeal muscular dystrophy (OPMD)

Functional analysis of human mutations in Mendelian disease genes using bioluminescence assays

C.elegans and computatinal study of orphan diseases

A new rare ribosomopathy (research program)

Investigating Intracellular Transport: A Microscopic Analysis of the Microtubule Network and Early Endosomes in mouse fibroblast Cells

Désintégration cellulaire : disparition crépitante

Mouse Brain Vasculature

Au coeur des fibres – At the heart of fibers

Hunter syndrome

Dravet syndrome

Amyotrophic lateral sclerosis (ALS)

Figure : Étude de l’effet in vivo des molécules sénomorphiques sur les altérations musculaires observées en dystrophie myotonique de type 1 (DM1). (A) Le processus de myogenèse est affecté par l'environnement pro inflammatoire présent en DM1, ce qui entraine une faiblesse et une atrophie musculaire (B) Résultats in vitro montrant le potentiel des lipides bioactifs à diminuer l'expression des gènes inflammatoires et à stimuler la myogenèse sur des myoblastes issues de patients DM1. Images représentatives d'immunofluorescences pour MyHC (rouge) et DAPI (bleu) sur des myoblastes différenciés en myotubes après un traitement aux lipides bioactifs en comparaison au véhicule (C) Projet in vivo sur des souris DMSXL visant à valider ces résultats dans un modèle de souris préclinique.

Myotonic dystrophy type 1 (DM1)

CHARGE Syndrome

DOORS Syndrome

Hirschsprung disease

Amyloidosis

Ribosomopathies (research program)

Hirschsprung disease

Beginning of Metastasis…. (1/2)

Painting 3D engineered muscle

The fabulous fate of neural crest cells

CHARGE Syndrome

Myotonic dystrophy type 1 (DM1)

Alzheimer and Schizophrenia

Al-Raqad Syndrome and Early Onset Schizophrenia

CHARGE Syndrome

CHARGE Syndrome

Syndrome de Waardenburg

Niemann-Pick-C desease

CRASH Syndrome

Rett-atypic syndrome and congenital mirror movement disorder

Amyloidosis

Hypertrophic cardioencephalomyopathy (HCEM)

CHARGE Syndrome

Mitochondria-Derived Vesicles

Beginning of Metastasis…. (2/2)

Secondary haemophagocytic lymphohistiocytosis

Malignant pleural mesothelioma

Melioidosis

Simple epidermolysis bullosa

Congenital Mirror Movements

Duchenne muscular dystrophy (research program)

MEDNIK Syndrome (research program)

Amyloidosis

Ribosomopathies

Triple-negative breast cancer

DOORS syndrome (Deafness, Onycho-Osteodystrophy, Mental retardation, Seizures) (research program)

Inflammatory bowel disease (research project)

Orphan neurodevelopmental deseases (research program)

CHARGE Syndrome

Rare retinopathies (research program)

Brain cancer

Neurodegenerative diseases and Fanconi anemia (research program)

HIV infection

Zebrafish and the study of rare developmental diseases (research program)

Pulmonary infections and lung cancers

Duchenne muscular dystrophy (DMD)

Hirschsprung desease

Batten disease

Amyloidosis

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