The Simons Foundation Autism Research Initiative (SFARI) is soliciting your feedback about the utility/priority of patient-derived induced pluripotent stem (iPS) cells from individuals with high-confidence ASD risk variants. SFARI has access to biospecimens suited for iPS cell generation from participants in the Simons Simplex Collection (SSC) and Simons Variation in Individuals Project (Simons VIP). We hope your replies will help us to create a research infrastructure that will allow the use of SFARI biospecimen resources in the most helpful and impactful way.

We ask that you support your answers with examples or explanations as opposed to simple yes or no responses. And please let us know if you think we missed other important questions. 

Question Title

* 1. How important do you consider research on patient-derived iPS cell lines from individuals with high-confidence autism spectrum disorder (ASD) risk mutations as compared to iPS cell lines in which the risk mutation has been introduced by genome engineering or other methods? Please also consider that some types of mutations are difficult to re-create with genomic engineering.

Question Title

* 2. Below is a curated list of genetic risk factors/variants that are either associated with already-collected biospecimens or for which we consider collecting biospecimens suitable for iPS cell generation. Please select the five genes/variants you are most interested in for the purpose of iPS cell creation. Please prioritize your choices, with your top choice first.

  genes/variants
1 - highest priority
2
3
4
5 - lowest priority

Question Title

* 3. Are there other genes or specific variants that you would like us to consider? If so, why?

Question Title

* 4. Do you think, in addition to an individual’s genetic status, any other criteria should be used to prioritize the selection of patients from whom iPS cell lines will be created? Please provide support for your answer below.

Question Title

* 5. Do you see use for patient-derived iPS cells for the study of common variants or genetic background effects in ASD?

Question Title

* 6. Based on your experience, how many independent patient-derived iPS cell lines per gene/variant does it take to run a well-powered experiment?

Question Title

* 7. Based on your experience, how many iPS cell clones per individual does it take to run a well-powered experiment?

Question Title

* 8. Do you think familial controls without the mutation in question are a necessity when working with patient-derived lines?

Question Title

* 9. Which of the cell types below do you prefer for iPS cell generation?

Question Title

* 10. What is your preferred method of re-programming? Please choose from the options below.

Question Title

* 11. What is your previous experience with iPS cells?

Question Title

* 12. If you have previously worked with patient derived iPS cells, where did you acquire them?

Question Title

* 13. Would you be interested in using iPS cell lines provided by SFARI?

Question Title

* 14. Do you have any other comments/suggestions that would be helpful for SFARI to consider regarding the funding/generation of iPS cell resources and studies?

Question Title

* 15. We would appreciate you sharing your name with us, as it provides helpful context. Please be reassured that all your answers will be kept confidential and will have no impact on future SFARI funding decisions.

Question Title

* 16. What is your current position?

Question Title

* 17. May we contact you in case we have follow up questions?