Brain Gene Registry
What is it?
The Brain Gene Registry is a NIH grant-funded research study led by Washington University – St Louis, Boston Children’s/Harvard, and University of North Carolina. Genes of interest have an underlying intellectual disability and/or autism. While all can participate, it focuses on gathering information for variants of unknown significance (VUS). This is a one-time caregiver/patient-entered data collection research study.
Why should you participate?
- Anyone with a genetic report with a variant can participate. SETBP1 is a top gene of interest.
- Enrollment in GenomeConnect is encouraged for notification of VUS (Variant of Unknown Significance) gene changes and other helpful resources.
- A VUS means that there isn’t enough of or consistent quality information to determine that specific variant causes the disorder. Explanation of VUS by a Genetic Counselor that we can all understand!
- A one-time phone or video appointment for gathering medical history.
- Electronic medical history gathered from one of the 13 participating clinical sites or manual upload if not seen at a participating site.
- For individuals receiving a genetic report with a VUS, they gather valuable clinical information that is necessary for reclassification of variants.
- Reclassification to pathogenic or likely pathogenic variant is important for 1) validating a clearer diagnosis of SETBP1-HD vs another cause 2) validating a clearer diagnosis of SETBP1-related disorders vs another cause3) being included in clinical trials 4) broadening the clinical and research communities understanding of symptoms.
What does participation look like?
It is a completely remote study that involves two virtual meetings: an initial consent/registration meeting and a telehealth appointment with the research coordinators. There will also be some additional surveys for the parents to complete. All of these assessments will help with reclassifying variants of uncertain significance to benign or pathogenic and collecting information to influence potential management and treatment options. This study is also available in Spanish.
If you are interested in enrolling, feel free to email or call Alexa Taylor at Children’s National and she can set up a time to meet virtually!
Alexa Taylor
Email: ataylor4@childrensnational.org
Phone: 717-686-8711