Description
The Mitochondrial Disease Sequence Data Resource (MSeqDR) is a central web portal that makes it easier to organize and analyze information from individuals and families with diagnosed and suspected mitochondrial disease. Currently, there is no mechanism in place to allow this group of individuals and families to choose who can access and analyze their information. The purpose of this project is to (1) Make it easier for participants to share their genomic data and (2) allow participants and/or their families to choose who can have access to and analyze these data, and how easily their data can be identified.
What to expect
The study will require participants to indicate their interest in enrollment by contacting the study team at MSeqDR@chop.edu. Then, the study team will schedule a phone call to discuss the study and to complete a consent form and a brief questionnaire. After the consent form is complete, participants will sign release form(s) to obtain genomic data from laboratory. The study team will then facilitate genomic data transfer from laboratory to MSeqDR web portal. The study team will remove participant's personal information from the transferred genomic data and label it with a number unique to the participant which is called a GUID (global unique identifier). The GUID will then be sent by secure email to participants. Participants can share GUID to any clinician/researcher of their choice, however, the clinician/researcher will need to be granted approval by MSeqDR Data Access Committee. The genomic data will then be made accessible to approved clinician/researcher in MSeqDR for analysis.Â
