Simons VIP: Variation in Individuals Project
The Simons Variation in Individuals Project (Simons VIP) is a research initiative that aims to identify and study a large number of individuals with a recurrent genetic variation (deletion or duplication of segment 16p11.2) that increases the risk of developing autism spectrum and other neurodevelopmental disorders. The Simons VIP will collect detailed clinical information and blood samples from more than 200 carriers and their families, with the immediate goal of identifying medical, cognitive, neural and behavioral profiles shared by this genetically identified group. Careful analysis of genetically defined autism subtypes will allow detailed phenotypic comparisons within and among these groups to clarify genotype-phenotype correlations. Other recurrent genetic variants will be considered in the future.
A paper published 22 March, 2012 in Neuron further details the motivation behind the project and its design. To download "Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders," click here.
Participants are recruited in various ways, including referral by clinical genetic centers or testing laboratories, by web-based networks or by self-referral of families who learn about the Simons VIP. Family participation is key to the project's success. The Simons VIP will work with families to develop a community for 16p11.2 families (Simons VIP Connect) and provide access to cutting-edge clinical and research information.
- Extensive psychological and neurological testing, along with neuroimaging (MRI, fMRI, MEG) with a uniform protocol, will take place at a select group of university-based medical centers participating in the Simons VIP. You can review the list of measures used in the Simons VIP, as well as the list of Simons VIP investigators.
- DNA is extracted from blood samples and fibroblasts are cultured and cryopreserved from skin biopsy samples at the Rutgers University Cell and DNA Repository in New Jersey. Stored samples are available to approved researchers on a modest fee-for-use basis, through a web interface called SFARI Base.
- Data are collected and managed using software developed by Prometheus Research, LLC. A central database characterizing all of the study subjects (with identifying information removed) is available to any qualified researcher through a web interface called SFARI Base.