What is an orphan disease?

An orphan disease is a pathology that does not benefit from effective therapies, mainly due to lack of knowledge. These diseases are generally rare, each affecting less than 1 in 2,000 people. The small number of cases seen in the clinic also complicates the diagnosis. These rare / orphan diseases are more than 7,000 worldwide, 80% of which are genetic. Other causes include infections or poisoning. Most of these diseases are fatal and around 75% affect children. According to the Regroupement Québécois des Maladies Orphelines (RQMO), nearly one in 20 people is suffering from or carrying a rare disease in Quebec, approximately 500,000 Quebecers. While the identification of the genes involved in rare diseases benefits greatly from the Human Genome project, much research is still needed to understand pathogenic mechanisms and develop therapies.

Do you have an orphan disease or are a caregiver?

Get more information about your illness by contacting the RQMO.

Center of Excellence in Research on Orphan Diseases-Courtois Foundation (CERMO-FC)

The Center of Excellence in Research on Orphan Diseases – Fondation Courtois (CERMO-FC) founded at UQAM brings together 58 researchers, from UQAM and outside UQAM, with complementary research interests biomedical and biopharmaceutical. The center has given itself the missions of:

1.Advocate a translational research approach by using various technological platforms and thus offer the possibility of creating new collaborations between members working in transdisciplinary sectors. These infrastructures include:

2.Through research, develop and deepen knowledge on orphan diseases in order to identify therapeutic targets allowing to improve the care of patients, their follow-up and their quality of life, especially in children, while preparing the next generation in this area through education and training.


Together, the members of CERMO-FC work on:

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

To learn more about research projects done at CERMO-FC, please visit the Research Projects page.


 CERMO-FC history activities -2018-2019-