bobh Posted July 7, 2019 Report Share Posted July 7, 2019 (edited) If you or your child have a PANS or PANDAS diagnosis from a licensed medical practitioner, and you have 23andMe genetic data for that person, you are invited to participate in a follow-up research study titled “Replication of a Genetic Association Among Patients with PANDAS or PANS”. This study is being conducted by Bob Horvath, Michaela Holden and Sam Keating. We are "citizen scientists” with some qualifications in statistics and data manipulation, and direct experience (ourselves or family members) with PANS and other autoimmune or immunological conditions, as well as autism. The purpose of this study is to replicate a specific variation in DNA that was found in a previous pilot study to occur more commonly among those with PANS or PANDAS (P/P) than the general population. You can see details of that pilot study here: https://osf.io/pf7q2/. In this replication study, we also hope to demonstrate statistical significance for up to 9 other genetic variations known as SNPs, and begin development of a predictive model of P/P based on genetics. We will post a link here to the results. Participation in this is entirely voluntary. You can choose to participate anonymously, or with your name attached to the data. There will be no effect on your relationship with the researchers, or any other negative consequences with not participating. If you agree to participate, you will be asked to click on a link below and upload 23andMe data for one person. You may also email your data (see below). Note that for this study we cannot use additional data of close relations, and, if you participated in the previous pilot study, we also will not be able to make use of that same data, or that of close relations of those that participated in the pilot study. The data will be collected regularly from the upload site, until a total of 70 valid data sets is reached. All data uploaded will be safely stored (with no direct identification of participants) on two computers only. Those received after the 70th data set will also be retained for possible later use. Even if you give your name, the data will be separated from and stripped of that name before being stored. After the initial upload and de-identification steps, no other person, website or online service will have access to your data with your identification attached to it. The de-identified data will be uploaded to GEDmatch in order to obtain ancestry, and to confirm no close relatedness to other participants. For those that contribute anonymously, the only link between the principle researcher (Bob Horvath) and you will be a fake name and email address that you give at the upload site. You are free to withdraw from this study at any time. However, once you submit your data, the only way to withdraw anonymous data is if you contact Bob Horvath and reveal your fake name, so that it can be known which data is to be removed. This step could reveal your identity, but your data will be removed from the study. Only Bob Horvath will have access to this full data. De-identified results of the SNPS of interest and analysis of the data will be made known at the Open Science Foundation website. There are no known risks associated with this study, beyond any risk there may be associated with the original data existing (e.g. on the originating site, such as 23andMe). While you will not likely experience any immediate direct benefits from participation, information collected in this study may benefit you and others in the future by helping to determine genetic factors associated with P/P. If you have any questions regarding the survey or this research project in general, please contact the principal investigator, Bob Horvath, at firstname.lastname@example.org By clicking on one of the links below to the upload site, or sending data to the email address above, you are indicating your consent to participate in this study. If you want to contribute anonymously, submit only a fake name and email address at one of the links below. If you use a fake name, make it unique (unidentifiable by others) and make a record of it, in case there is any need to try to contact you (via a comment to this poll in the online groups it is listed in). To upload data for a person that has been diagnosed by a licensed medical practioner(s) with both PANS and PANDAS, click on this link: https://www.dropbox.com/request/0dQQliIe42uzZu28kiMU To upload data for a person that has been diagnosed by a licensed medical practioner with PANDAS (but not PANS), click on this link: https://www.dropbox.com/request/dP7F70p7JdZlWCickAaV To upload data for a person that has been diagnosed by a licensed medical practioner with PANS (but not PANDAS), click on this link: https://www.dropbox.com/request/TrZl51Gi9C2HDDUgx5B3 Edited July 7, 2019 by bobh added the word "follow-up" to help distinguish from the pilot study Link to comment Share on other sites More sharing options...
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