Team NeoPhen, 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 NeoPhen 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.
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.
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CCHS is a disease characterized by a congenital impairment of the central control of breathing, associated with dysfunctions of the autonomic nervous system (ANS) (Gallego, 2012). At birth, patients have severe and persistent hypoventilation during sleep and a...