Team SleepCmd, in collaboration with team NeuroDev (Dr. Andrée Delahaye), receive support from the CCHS Foundation in 2022 to study the genetic dysregulations that could be associated with Congenital Central Hypoventilation Syndrome (CCHS).
Members of the SleepCmd and NeuroDev teams involved in the project
From left to right: Dr. Jorge Gallego, Eleonore Sizun, Dr. Nelina Ramanantsoa, Maud Ringot, Dr. Andrée Delahaye, Boris Matrot, Pr. Stéphane Dauger and Thomas Bourgeois.
© NeuroDiderot
Research project
We propose to analyse the respiratory function in mice carrying the PHOX2B +7Ala mutation which reproduces the main symptoms of CCHS: apneas, hypoventilation and lack of ventilatory response to CO2. This mouse model has shown that the PHOX2B +7Ala mutation causes gene deregulations in two brainstem regions involved in respiratory control. The team hopes to identify pharmacological treatments capable of regulating gene expression and possibly improving the respiratory function of the animals.
Read more
Conference Danielle Beckman Friday 28 November 2025
séminaire Danielle Beckman _28-nov-2025 english
Conference Dr. Julien Courchet Thursday 20 november 2025
séminaire Julien Courchet _20-nov-2025 english
Conference Dr. Alexandra Benchoua Thursday 27 november 2025
séminaire A-Benchoua _27-nov-2025 english
New Golgipathy identified in NeuroDev team
The NeuroDev team publishes an article in Life Science Alliance [1] identifying the first human pathogenic variant of GORASP1, the gene encoding the Golgi stacking protein GRASP65, and demonstrating its consequences on glycosylation and mitotic progression. [1] S....