Center of Excellence in Orphan Disease Research - Courtois Foundation (CERMO-FC)
The Center of Excellence in Orphan Diseases Research – Fondation Courtois (CERMO-FC), founded at UQAM, brings together 58 researchers from UQAM and outside UQAM, with complementary interests in biomedical and biopharmaceutical research. The center has given itself the following missions:
1. To support translational research approach using diverse technology platforms, providing the opportunity to create new collaborations among members working in transdisciplinary areas. These infrastructures include platforms of:
- Transgenesis and genome editing
- Genomics
- Bioinformatics
- Cellular analysis
- Mass spectrometry
- Biophysics and biomolecular screening
2. Through research, develop knowledge on orphan diseases in order to identify therapeutic targets to improve patient care, monitoring and quality of life, especially in children, and prepare the next generation of researchers in this field through education and training.
Together, the members of CERMO-FC work on :
Fanconi anemia
Leishmaniasis
Malaria
Polycythemia vera
Congenital toxoplasmosis
Herpes simplex virus encephalitis
Leukocyte adhesion deficiency
Melioidosis
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
Super-gonorrhea
Arrhythmogenic right ventricular cardiomyopathy
Cystic fibrosis
Congenital diaphragmatic hernia
Primary pulmonary hypoplasia
Tetralogy of Fallot
Pleural mesothelioma
Amyloidosis
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
Vitreoretinopathy
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
Myelomeningocele
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.
History of activities of CERMO-FC 2018-2019
What is an orphan disease?
An orphan disease is a pathology that does not have effective therapies, mainly due to the lack of knowledge. These diseases are usually rare, each affecting less than one person in 2000. The small number of cases seen in the clinic also complicates the diagnosis. These rare / orphan diseases are more than 7,000 in the world, 80% of which are of genetic origin. Other causes include infections or intoxications. Most of these diseases are life-threatening and about 75% affect children. According to the Regroupement Québécois des Maladies Orphelines (RQMO), close to one in 20 people would be infected or have a rare disease in Quebec, which is about 500,000 Quebecois. While identifying the genes involved in rare diseases greatly benefits from the Human Genome Project, much research is still needed to understand the pathogenic mechanisms and develop therapies.
Do you have an orphan disease or are you a caregiver?
Get more information about your disease by contacting RQMO.
