Individuals with a diagnosis of Tatton Brown Rahman Syndrome are eligible to participate in the National Brain-Gene Registry, a large study aimed at understanding the consequences of genetic variants on neurodevelopment. There are 13 sites at academic medical centers and hospitals around the US collaborating on this NIH-funded study, led by Harvard University/Boston Children’s Hospital, the University of North Carolina at Chapel Hill, and Washington University School of Medicine.
Participation includes filling out a questionnaire, having a virtual visit with a study team member, and contributing some medical information, including the patient’s genetic report indicating a variant in the DNMT3A gene.
The information you contribute to the study will help researchers better understand the relationship with genetic variants and neurodevelopmental outcomes. The study is fully remote and takes a total of 2 – 3 hours to complete. They compensate participants $50 at the time of enrollment and an additional $50 after completion of the questionnaires and video visit.
Please contact Virginia at: [email protected] or call 314-620-4542 with questions or to enroll.
We are grateful to these study leaders for taking an interest in TBRS, and to all families who participate!
