CERMO-FC – Centre d'excellence en recherche sur les maladies orphelines

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:

Hematological, immunological and infectious 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

Cardiovascular and Respiratory diseases (6)

Arrhythmogenic right ventricular cardiomyopathy

Cystic fibrosis

Congenital diaphragmatic hernia

Primary pulmonary hypoplasia

Tetralogy of Fallot

Pleural mesothelioma

Cell organelle-associated (including ribosomes) and inherited metabolic diseases (24)

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

Muscular diseases (10)

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

Neural crest and Ocular diseases (8)

CHARGE syndrome

Hirschsprung disease

Norrie disease

Familial exudative vitreoretinopathy

Waardenburg-Shah syndrome

Colobomatous microphthalmia

Retinopathy of prematurity

Vitreoretinopathy

Neuronal diseases (22)

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

Reproductive system diseases (5)

Gestational trophoblastic neoplasm

Gestational choriocarcinoma

Rare malignant breast cancer

HELLP syndrome

Gestational trophoblastic disease

Skeletal diseases (6)

Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

Holt-Oram syndrome

Arthrogryposis multiplex congenital

Yunis-Varon syndrome

DOORS syndrome

Genitopatellar syndrome

Skin diseases (3)

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-

Nouvelle approche thérapeutique dans le traitement de la maladie d’Hirschsprung | New therapeutic approach in Hirschsprung's disease treatment

Caractérisée par un manque de neurones entériques dans la paroi du côlon, la maladie d’Hirschsprung est une maladie rare qui affecte un nouveau-né sur 5000 et dont le seul traitement réside dans une technique chirurgicale datant des années 60. Rodolphe Soret, professeur associé au Département des sciences biologiques, et Nicolas Pilon, professeur au même département et membres du CERMO-FC, en collaboration avec des collègues du CHU Ste-Justine et du Children’s Hospital of Philadelphia, ont mis au point une approche thérapeutique révolutionnaire permettant de générer de nouveaux neurones entériques. Une approche qui permettrait d’éviter une chirurgie qui reste une technique invasive dont les séquelles à la longue pourraient devenir fatales. | Characterized by a lack of enteric neurons in the colon wall, Hirschsprung's disease is a rare disease that affects one in 5,000 newborns and whose only treatment lies in a surgical technique dating from the 1960s. Rodolphe Soret, associate professor in the Department of Biological Sciences, and Nicolas Pilon, professor in the same department and members of CERMO-FC, in collaboration with colleagues from CHU Ste-Justine and the Children's Hospital of Philadelphia, have developed a revolutionary therapeutic approach to generate new enteric neurons. An approach which would make it possible to avoid a surgery which remains an invasive technique whose sequelae in the long run could become fatal.
COVID19 : Des membres du CERMO-FC reçoivent une subvention de l’IRSC | Covid 19 : CERMO-FC members receive a CIHR grant

Le Dr Denis Archambault, professeur au département des sciences biologique de l’UQAM et membre du CERMO-FC, en collaboration avec trois autres chercheurs, incluant le professeur Steve Bourgault, du département de chimie de l’UQAM et Co-directeur du CERMO-FC, ont reçu une subvention de 622 782 dollars des Instituts de Recherche en Santé du Canada (IRSC) pour développer un nanovaccin contre le virus SARS-CoV-2, responsable de la COVID-19, dans le cadre du concours «Subvention de fonctionnement: Possibilité de financement pour une intervention de recherche rapide contre la COVID-19 (mai 2020)». | Dr Denis Archambault, professor from the biological sciences department of UQAM and CERMO-FC member, in collaboration with three other researchers, including Professor Steve Bourgault, from UQAM chemistry department and CERMO-FC co-director, received a $ 622,782 grant from the Canadian Institutes of Health Research (CIHR) to develop a nanovaccine against the SARS-CoV-2 virus, responsible for COVID-19, as part of the "Operating Grant" competition : Possibility of funding for a rapid research intervention against COVID-19 (May 2020) ”.
Pause-Conférence | Wesley Freppel, candidat au PhD (INRS-IAF) et Noé Quittot candidat au PhD (UQAM).

Le jeudi 05 Mars, Wesley Freppel présentera les Manipulations morphologiques et métaboliques des mitochondries par les virus de la dengue et Zika. Par la suite, Noé Quittot nous expliquera comment des glycosaminoglycanes à la surface cellulaire exacerbent la perturbation membranaire induite par l’amyloïdogénèse. Venez nombreux! | On Thursday 05 March, Wesley Freppel will present the Morphological and metabolic manipulations of the mitochondria by the dengue and Zika viruses. Subsequently, Noé Quittot will explain to us how glycosaminoglycans on the cell surface exacerbate the membrane disturbance induced by amyloidogenesis. Come many!
10e Journée rare RQMO | 10th Rare disease day RQMO

Le RQMO (Regroupement québécois des maladies orphelines) organise pour la 10e fois une journée consacrée aux maladies rares qui aura lieu le samedi 29 février prochain au centre de recherche du CHU Ste Justine. Pour cette occasion, Dr Steve Bourgault du département de Chimie-Biochimie à l’UQAM et co-directeur du CERMO-FC fera partie du Panel des Chercheurs | The RQMO is organizing for the 10th time a day devoted to rare disease which will take place on Saturday February 29 at the CHU Ste Justine research center. On this occasion, Dr Steve Bourgault from UQAM department of Chemistry-Biochemistry and CERMO-FC Co-director will participate to the Panel of Researchers.
Journée mondiale des maladies orphelines | Rare disease day

Dans le cadre de la journée mondiale des maladies rares qui aura lieu samedi 29 février 2020, l’émission, ``Ça me regarde`` d’AMI-tv reçoit Dr Nicolas Pilon directeur du Centre d’excellence en Recherche sur les Maladies Orphelines-Fondation courtois (CERMO-FC) | As part of the Rare Disease Day which will take place on Saturday February 29, 2020, the program `` ça me regarde '' of AMI-tv receives Dr Nicolas Pilon director of the Centre d’excellence en Recherche sur les Maladies Rares-Fondation Courtois (CERMO-FC)