Through fundamental and applied research, the CERMO-FC’s mission is to develop knowledge on orphan diseases in order to identify therapeutic targets to improve the management of patients, their follow-up and quality of life, and prepare the next generation of researcher in this field through education and training.

Together, CERMO-FC members work on, among other pathology:

Fanconi anemia



Polycythemia vera

Congenital toxoplasmosis

Herpes simplex virus encephalitis

Leukocyte adhesion deficiency


MALT lymphoma

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

AL amyloidosis

Adult T-cell leukemia/lymphoma

Dengue fever

Secondary hemophagocytic lymphohistiocytosis

Zika virus disease


Arrhythmogenic right ventricular cardiomyopathy

Cystic fibrosis

Congenital diaphragmatic hernia

Primary pulmonary hypoplasia

Tetralogy of Fallot

Pleural mesothelioma


Blackfan-Diamond anemia

Krabbe disease

Berardinelli-Seip congenital lipodystrophy

Mucolipidosis type II

Mucolipidosis type IV

Mucopolysaccharidosis type 1

Mucopolysaccharidosis type 2

Niemann-Pick disease type C

Prader-Willi syndrome

Hutchinson-Gilford progeria syndrome

Shwachman-Diamond syndrome

Treacher-Collins syndrome

TMEM70-related mitochondrial encephalo-cardio-myopathy

Dyskeratosis congenital

Microvillus inclusion disease

Wolfram syndrome

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Juvenile neuronal ceroid lipofuscinoses

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

Hereditary North American Indian childhood cirrhosis

MEDNIK syndrome

Rare diabetes mellitus type 2

Proximal spinal muscular atrophy

Limb-girdle muscular dystrophy type 2b

Oculopharyngeal muscular dystrophy

Steinert myotonic dystrophy

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy, Ullrich type

Congenital myopathy

Duchenne muscular dystrophy

Congenital muscular dystrophy due to dystroglycanopathy

Autosomal recessive myogenic arthrogryposis multiplex congenita

CHARGE syndrome

Hirschsprung disease

Norrie disease

Familial exudative vitreoretinopathy

Waardenburg-Shah syndrome

Colobomatous microphthalmia

Retinopathy of prematurity


Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Occipital horn syndrome

Menkes disease

Amyotrophic lateral sclerosis

Early-onset autosomal dominant Alzheimer disease

Isolated anencephaly/exencephaly

Bowen-Conradi syndrome

Autosomal recessive primary microcephaly

Atypical Rett syndrome

Serotonin syndrome

Corpus callosum dysgenesis-hypopituitarism syndrome


Early-onset schizophrenia

Rare non-syndromic intellectual disability

Distal hereditary motor neuropathy, Jerash type

Familial congenital mirror movements

Arnold-Chiari malformation type I

L1 syndrome

Familial Alzheimer-like prion disease

Juvenile amyotrophic lateral sclerosis

RNF13-related severe early-onset epileptic encephalopathy

Al-Raqad syndrome

Gestational trophoblastic neoplasm

Gestational choriocarcinoma

Rare malignant breast cancer

HELLP syndrome

Gestational trophoblastic disease

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

Holt-Oram syndrome

Arthrogryposis multiplex congenital

Yunis-Varon syndrome

DOORS syndrome

Genitopatellar syndrome

Cowden syndrome

Epidermolysis bullosa simplex

Peutz-Jeghers syndrome

Research continuum

Through its multidisciplinary team of researchers, infrastructure capabilities and network, CERMO-FC aspires to become the international reference on orphan diseases research. Its translational research approach is divided into 4 stages:

Photo credits: Pascal Chhay