Centre d’Excellence en Recherche sur les Maladies Orphelines-Fondation Courtois
Orphan disease research continuum
Orphan diseases are defined as pathologies that do not benefit from any therapy. These diseases are mainly pediatric cases with a poor vital prognosis. Usually rare, the result is a lack of data and information necessary for their study.
Credit: Pascal Chhay
The Center of Excellence in Research on Orphan Diseases – Fondation Courtois (CERMO-FC) founded at UQAM brings together more than 70 researchers from UQAM and outside, with complementary interests in biomedical and biopharmaceutical research. The CERMO-FC community has set itself the task of remedying this lack of knowledge through fundamental and applied research in order to develop and deepen knowledge on orphan diseases and, in doing so, to identify therapeutic targets to improve patient care, follow-up and quality of their life. At the same time, CERMO-FC is preparing the next generation in this field through education and training.
“We have the ambition to improve patient care, from diagnosis to the development of therapies. Through its structure, CERMO-FC wants to stimulate researchers in the biological sciences to collaborate with clinicians and researchers in biopharmaceuticals, in order to lead their discoveries towards concrete applications. “
Prof. Nicolas Pilon, also holder of the UQAM Research Chair in Rare Genetic Diseases.
Through its multidisciplinary team of researchers, its infrastructure capacities and its network, CERMO-FC aspires to become the hub for research on orphan diseases at the international level. Its translational research approach is decline into 5 stages:
Together, the members of CERMO-FC are working on the following orphan diseases:
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
Technological platforms
CERMO-FC advocates 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: