GENETICS OF DISORDERS RELATED TO NEURECTODERMAL DEVELOPMENT

One important challenge in biology is to understand how the human central nervous system is built. Brain represents the central organ that processes information perceived by our senses and determines our actions. This complex neural structure arises from a highly regulated developmental process that spans from the third week of embryonic development to teen age.
Our research team investigates biological processes that governs brain establishment during early steps of development in normal situation, and also focuses on neurodevelopmental disorders to establish their causes and consequences at molecular, cellular and organ levels. Another important part of our activity is dedicated to the transfer of knowledge acquired during our studies to improve clinical practices.

 

MAIN ACHIEVEMENTS

Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein. Kim A, Le Douce J, Diab F, Dubourg C, Odent S, Dupé V, David V, Diambra L, Watrin E, de Tayrac M. Brain. 2020 Jul.

Disrupted brain development in association with reduced sonic hedgehog signalling underlies the pathogenesis of NOTCH-deficiency. Hamdi-Rozé H, Ware M, Guyodo H, Rizzo A, Ratié L, Rupin M, Carré W, Kim A, Odent S, Dubourg C, David V, de Tayrac M, Dupé V. J Clin Endocrinol Metab. 2020 Sep.

Integrated Clinical and Omics Approach to Rare Diseases : Novel Genes and Oligogenic Inheritance in Holoprosencephaly. Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Le Douce J, Frex Consortium, GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute 0, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V. Brain. 2019 Jan.