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

Stephan Eliez

Fundamental Neurosciences – Principal Investigators

Paola Bezzi portrait

Paola Bezzi

Alan Carleton portrait

Alan Carleton

Pico Caroni portrait

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 portrait

Philippe Conus

Kim Do-Cuénod portrait

Kim Do Cuénod

Fundamental Neurosciences – Principal Investigator

Kim Do-Cuénod portrait

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 portrait

Marie Schaer

Fundamental Neurosciences – Principal Investigators

Claudia Bagni portrait

Claudia Bagni

Camilla Bellone portrait

Camilla Bellone

Peter Scheiffele portrait

Peter Scheiffele

Ralf Schneggenburger portrait

Ralf Schneggenburger