The 11th edition of the Assises de Génétique was held in Rennes, France, from 1st to 4 February. This major event, which brings together the French-speaking medical genetics community, gathered more than 1700 geneticists from Belgian, French, Swiss and Luxembourg teams in particular.
On this occasion, Dr Guillaume Jouret, from the National Center of Genetics of the Laboratoire national de santé (LNS) was selected to present an international collaborative research work fully coordinated from the LNS.
This involves the characterisation of a new genetic syndrome associated with the BRD4 gene, to better understand the molecular causes and clinical consequences, but also to enable other teams to make this diagnosis, and finally to better understand the symptoms of patients in order to offer them personalised and coordinated follow-up.
This work has made it possible to characterise a new syndrome and to affirm that pathogenic variations of the BRD4 gene are responsible for this pathology, which is part of the group of cohesinopathies.