Breaking news for Central Congenital Hypoventilation Syndrome

In collaboration with Dr. Muriel Thoby-Brisson (Université de Bordeaux, Institut de Neurosciences Cognitives et Intégratives d’Aquitaine, CNRS), and thanks to Fondation Air Liquide, Association Française du syndrome d’Ondine and start-up company ATMOSR, team NeoPhen published in the prestigious “Blue Journal” (American Journal of Respiratory and Critical Care Medicine) a study^[1] showing that, in newborn mice, Phox2b27Ala/+ mutation predisposed pups not only to hypoventilation and central apneas, but also to obstructive and mixed apneas, likely because of hypoglossal dysgenesis. These results thus demand attention toward obstructive events in infants with CCHS. A study highlighted in Inserm magazine n°56 March 2023.

1: Madani A, Pitollat G, Sizun E, Cardoit L, Ringot M, Bourgeois T, Ramanantsoa N, Delclaux C, Dauger S, d’Ortho MP, Thoby-Brisson M, Gallego J, Matrot B. Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome. Am J Respir Crit Care Med. 2021 Nov 15;204(10):1200-1210. doi: 10.1164/rccm.202104-0887OC. PMID: 34478357.

schema-explicatif-Inserm-U-1141-NeuroDiderot

Putative pathophysiology of obstructive apneas in Ondine syndrome

Monosynaptic or polysynaptic projections of Phox2b neurons from the NTS or RTN to the 12N may be required for upper airway permeabilitý during sleep. 7N = facial nucleus; 12N = hypoglossal nucleus; AP = area postrema; NTS = nucleus of the tractus solitarius: RTN = retro-trapezoid nucleus. Adapted from Amorim et al. AJRCCM 2021.

In Press

Inserm magazine describes work of team SleepCmd and team DN3 led by Muriel Thoby-Brisson at Université de Bordeaux (INCIA), page 9:

Inserm, le magazine n°53

Conference Postponed Alexandra Benchoua from I-Stem : Human pluripotent stem cell models for high-throughput screening of therapeutic molecules and precision medicine in neurodevelopmental disorders.

Neurodiderot

Meeting Room 6th floor Bingen Building and Visio https://u-paris.zoom.us/j/84730677369?pwd=AFdhdI6alNWLbXub7sM1DJ33yUIOYN.1 - Summary séminaire A-Benchoua _27-nov-2025 english

New Golgipathy identified in NeuroDev team

In press, NeuroDev, Neurodiderot

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....

Job opportunity within The Integrative Genomics in Neurodevelopment group

Integrative genomics, NeuroDev, Neurodiderot

The Integrative Genomics in Neurodevelopment group is seeking a highly motivated post-doctoral researcher. Check out the opportunity here: Post-doc researcher position in Computational Biology

Sleep2Develop research program

Neurodiderot, Programs SleepCmd

The Sleep2Develop program investigates the role of sleep as a promotor of neurodevelopment and identifies the sleep determinants of childhood development. This is rephrased as Sleep(to)Develop? or Sleep(to)Develop! Our sleep research combines clinical and...