Research team uncovers new mechanism involved in neurodevelopmental disorders

Université Bourgogne Europe announces a major scientific breakthrough achieved by the GAD (Genetics of Rare Diseases) team at the CTM laboratory, Joint Research Unit 1231 of Université Bourgogne Europe and INSERM, as part of research led by Professor Antonio Vitobello, a researcher in medical genetics.

The research group has highlighted the decisive role of specific proteins, PTBP1 and PTBP2, in several forms of neurodevelopmental disorders observed in children.

This work reveals an unexpected link between the development of the central nervous system and that of the skeletal system, via atypical cellular mechanisms involved in these rare pathologies. The results of this study are the subject of a recent publication* in the Journal of Clinical Investigation, one of the most recognised international journals in the biomedical field.

More information in the official press release.