The Department of Medical Genetics at the University Hospital of Lausanne and the Center for Integrative Genomics, University of Lausanne, Switzerland under the direction of Jacques S. Beckmann, Alexandre Reymond and Sébastien Jacquemont, are currently conducting an interdisciplinary project on carriers of 16p11.2 rearrangements. By taking part in the study, each participant will contribute to a better understanding of the mechanisms underlying the clinical manifestations associated with deletions or duplications of this region.
Medical, neuropsychological, and psychiatric assessments as well as structural and functional neuroimaging will investigate the impact of these genomic rearrangements on brain development and functioning. Pathophysiology and molecular mechanisms are explored through high-resolution genotyping, transcriptomic and metabolic studies. Participants will receive medical and genetic counseling throughout the study.
This study is exploring ways to collaborate with the Simons Variation in Individuals Project. European families, who wish to take part in this study, are invited to Lausanne for a few days (travel and hotel expenses are covered). If you are interested or have any question regarding our project, please contact:
|Sebastien Jacquemont, MD
Division of Medical Genetics
Lausanne University Hospital (CHUV)
Phone: +41 21 314 5949
Cell: +41 79 556 86 65
|Loyse Hippolyte, Ph.D