Longitudinal study on the 22q11.2 deletion syndrome
One of the main aims of the DIP Lab is to study homogenous neurogenetic disorders that are associated with an increased risk for psychopathology. These conditions uniquely contribute to a better understanding of the existing interactions between genes, brain development, and the environment on liability to develop psychiatric disorders.
Within this framework, the study of 22q11.2 deletion syndrome (22q11DS) has been a focus of extensive work in the Lab. Patients with 22q11DS are characterized by an increased risk of developing schizophrenia spectrum disorders during adolescence and early adulthood, with an estimated prevalence of 35% in adulthood. For this reason, 22q11DS is currently considered as one of the highest known risk factors for psychosis.
Since 2002, we prospectively follow one of the largest cohorts of patients with 22q11DS worldwide. We use a combination of approaches to identify risk factors and biomarkers for the development of psychosis. These include: clinical and cognitive measures, functional (resting-state and task-based fMRI, EEG) and structural (T1-weighted MRI, diffusion tensor imaging (DTI)), and genotyping. We also conduct several clinical trials to translate research findings into innovative intervention strategies for patients with psychosis.
This project is a collaborative endeavor that involves a number of cutting-edge research groups at the national and international level:
- Prof. Stylianos Antonarakis (FACMED, Laboratory of Genetic Medicine and Development)
- Prof. Olaf Blanke (EPFL, Laboratory of Cognitive Neuroscience)
- Prof. Pico Caroni (Friedrich Miescher Institute for Biomedical Research)
- Prof. Martin Debbané (FPSE, Unité de Psychologie Clinique Développementale)
- Prof. Doron Gothelf (Tel Aviv University - Doron Gothelf)
- Prof. Patric Hagmann (CHUV, Service de radiodiagnostic et radiologie interventionnelle)
- Dr. François Lazeyras (FACMED, Department of Radiology and Medical Informatics)
- Prof. Christoph Michel (FACMED, Functional Brain Mapping Lab)
- Dr. Frauke Shultze-Lutter (Bern University)
- Prof. Martial van der Linden (FPSE, Unité de Psychopathologie et Neuropsychologie Cognitive)
- Prof. Dimitri van de Ville (EPFL, Medical Image Processing Lab)
- Dr. Pascal Vrticka (Max Planck Institute for Human Cognitive and Brain Sciences)
- Prof. Francesco Papaleo (https://www.iit.it/people/francesco-papaleo)
- The International Brain and Behaviour Consortium on 22q11.2 deletion syndrome