This procedure

will balance research priorities with potential burden on families. We envision that the Simons selleck VIP will produce immediate information about the medical, cognitive, and neuroimaging profiles of subjects with deletions and duplications of 16p11.2 that should be of considerable value to families and their clinicians. Phenotyping and neuroimaging protocols will be evaluated on a regular basis and additions or subtractions will be made depending on the value of the data. Future experiments may also involve recontacting families to ask for their participation in collecting additional data, such as EEG, quantitative sleep data, or additional biospecimens. Furthermore, the availability of biospecimens linked Ibrutinib cost to the other types of data will provide many future opportunities for follow-up study. For example, we expect that targeted resequencing of the remaining or extra 16p11.2 allele and/or expression studies may help to narrow down which genes in the interval are of particular relevance to the phenotypes. Exome or full-genome sequencing of the samples may identify other genetic alterations, in addition to 16p11.2, that may be relevant to the phenotype

and differential expressivity between individuals; analysis of epigenetics may be similarly informative. Studies that transform the banked fibroblasts into iPSCs and then differentiate them into neurons may help to understand how deletions or duplications of 16p11.2 influence early neural development or neuronal function and may provide an effective platform for high throughput screening of drugs that could potentially

be tested for efficacy in Vasopressin Receptor this genetically homogeneous cohort. In addition to supporting the core Simons VIP effort directly, SFARI will continue to entertain proposals through the regular Request for Applications (RFA) for work related to the analysis of phenotype or neuroimaging data and specimens. SFARI is prepared to join with other funding agencies in supporting further studies utilizing the resources generated by the Simons VIP effort. In closing, the genetics-first, multisite, and highly collaborative nature of this project, combined with clear data-sharing policies, allows for ready scalability. We think it will have broad applicability to other efforts to understand genotype-phenotype relationships. This approach is especially warranted in neuropsychiatric disorders, where the clinical heterogeneity of disorders, diagnosed behaviorally, present special problems, but should extend beyond as well. We are extremely grateful to the families who are participating in this study.