LABORATORY OF HUMAN NEUROGENETICS

Our laboratory is located in "La Timone" Medical School in Marseilles, in a research unit of the French Institute for Health and Medical Research (INSERM) and of Aix-Marseille University.

Our research unit is called "Medical Genetics & Functional Genomics".

We study rare, severe, intractable, and early-onset genetic diseases preventing normal neurodevelopment in a multidisciplinary setting.

We combine approaches in the fields of clinical genetics, pediatric neurology, molecular genetics, neurophysiology, molecular biology, animal behavior analysis and therapeutic development.

Our group is particularly focused on Rett syndrome (RTT), severe intellectual deficiencies and developmental and epileptic encephalopathies (DEE).

We have three major objectives :

1- to increase the knowledge in the field of rare genetic diseases affecting the children’s brain,

2- to improve diagnosis and prognosis for these diseases,

3- to develop new therapeutic strategies.

RARE DISEASES & CHILDREN’S neurodevelopment