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. MED13L 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.
- One time electronic survey and electronic submission of photos (face, hands, etc.).
- Electronic medical history gathering from 13 participating clinical sites or manual upload if not seen at a participating site.
- For individuals receiving a genetic report with a VUS, BGR gathers 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 MED13L vs another cause 2) being included in clinical trials 3) broadening the clinical and research communities understanding of symptoms.
Read more about this unique opportunity or enroll here for any individual with a VUS.
- Ongoing Opportunity
