Our group tries to identify the genetic cause of many rare conditions. Once we have a group of families with FIRES enrolled, we can begin analysis and if we find results, they can be reported out to specific families.
“We are a group of researchers in Boston interested in learning more about the genetic causes of rare conditions, like FIRES. We believe that by identifying a genetic cause, it may speed up the diagnosis process and give us a better understanding about the underlying biology of disorders. Enrollment is ongoing and participation is free, with no travel to Boston needed.
Participation includes completing some paperwork, having a research phone call appointment, and providing a DNA sample (through either blood or saliva). We try to enroll anyone who is affected and their first degree relatives (parents, siblings and children).
After we receive the DNA samples, the family’s active participation is complete, and our studies are ongoing with no set “end date.” We will be performing various types of genetic analysis on the samples with the goal of better understanding the genetic cause of FIRES, and multiple doctors and researchers here might access your sample to help us achieve this goal. If a clinically significant result for your family is found, we can report that back to you with the help of your doctor.
If you are interested in learning more, please contact the study coordinator Meghan Connolly at Meghan.firstname.lastname@example.org or 617-919-4287.”