Simons VIP: Variation in Individuals Project
The Simons Variation in Individuals Project (Simons VIP) is a new 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 families, with the immediate goal of identifying medical, cognitive, neural and behavioral profiles shared by this genetically identified group. Other recurrent genetic variants will be considered in the future.
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. Biospecimens will be stored at the Rutgers University Cell and DNA Repository in New Jersey, and all de-identified participant data will be available to qualified researchers worldwide through an informatics platform. Careful analysis of genetically defined autism subtypes will allow detailed phenotypic comparisons within and among these groups to clarify genotype-phenotype correlations.
For example:
- How do individuals with deletion or duplication of 16p11.2 differ from neurotypical controls, and from the broader population of those with autism who do not exhibit alterations at 16p11.2?
- What explains the phenotypic heterogeneity within the group of individuals with deletion or duplication of 16p11.2?
- How do core psychometric deficits correlate with structural and functional brain imaging findings?
- What is the natural history and longitudinal course of these subjects?
Addressing these questions in a defined genetic cohort should shed light broadly on the causes of autism spectrum and related disorders.
Longer-term goals are to:
- Use these data to improve the quality of clinical care and to develop targeted interventions for individuals with autism.
- Extend the Simons VIP to create a model multi-center effort to understand other identified microdeletions or other specific genetic subtypes.
