AXIS 1 : GENETIC AND THE BRAIN
AXIS-1 GENETIC FACTORS
Genetic factors that are determining neurodevelopmental disorders and their underlying psychopathologies.
WP#1 – 22q11 DELETION SYNDROME
WP#2 – BIOMARKERS OF EARLY PSYCHOSIS
WP#3 – AUTISM SPECTRUM DISORDERS
WP#1 - 22q11 DELETION SYNDROME
This translational project aims to identify neurodevelopmental alterations responsible for the increased risk of developing psychosis in patients with 22q11 deletions as well as in a mouse model called Lgdel.
The goal is to study the relationship between the alteration of certain neural circuits and the behavioral manifestations of the disease. For patients, this is done via a multimodal analysis of neural networks and cognitive endophenotypes. In mice, synaptic alterations and abnormal circuits affecting the hippocampus as well as the prefrontal and cingulate cortex are investigated.
Clinical Cohorts – Principal Investigator
Stephan Eliez
Fundamental Neurosciences – Principal Investigators
Paola Bezzi
Alan Carleton
Pico Caroni
WP#2 - BIOMARKERS OF EARLY PSYCHOSIS
Based on the hypothesis that a redox dysregulation is a major risk factor for the development of schizophrenia, a translational approach in both humans and mice model is investigated.
Neurochemical, transcriptomic and metabolomic profiles will be studied and associated with the analysis of structural and functional networks in psychotic patients. The results will be compared with similar approaches, carried out via a mouse model deficient in an enzyme important in the synthesis of glutathione.
Clinical Cohorts – Principal Investigators
Philippe Conus
Kim Do Cuénod
Fundamental Neurosciences – Principal Investigator
Kim Do Cuénod
WP#3 - AUTISM SPECTRUM DISORDERS
This is a novel project emerging from the collaboration of members of the NCCR-Synapsy. The goal is to create a cohort of autistic patients, to assess their social behavior and to determine the potential impact of an early intervention on the behavior of these patients.
In parallel, studies in animal models will attempt to elucidate the role of certain molecular circuits that could reverse the disease phenotype. The effects of mutations on the circuits involved in social perception, anxiety and “reward” as well as the impact of a social enrichment on development will be analyzed.
Clinical Cohorts – Principal Investigator
Marie Schaer
Fundamental Neurosciences – Principal Investigators
Claudia Bagni
Camilla Bellone
Peter Scheiffele
