RESEARCH

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:

Hirschsprung's disease
leukodystrophy of Krabbe
Menkes disease
Agenesis and dysgenesis of the corpus callosum
triple negative breast cancer
epidermolysis bullosa simplex
genitopatellar syndrome
Yunis-Varón syndrome
Waardenburg syndrome
CHARGE syndrome
DOORS syndrome
mucolipidosis II
lactic acidosis
dysosteosclerosis
spinal muscular atrophy
Charcot's disease

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