Frequently Asked Questions

How can I contribute to brain research by participating in the National Brain Gene Registry (BGR)?

Patients, their families, and care givers are essential partners in this project. By working together across institutions to contribute detailed and standardized information to a central registry, we may discover patterns underlying rare neurodevelopmental conditions. Findings can direct us to innovations in diagnostics, treatments and prevention.

To find out more about participating in the Brain Gene Registry, and whether you or your child could be eligible to enroll, please complete and submit the Enrollment Form. If you are eligible, a BGR Coordinator will telephone you to give you more information about the study.

Why participate in the National Brain Gene Registry (BGR)?

A goal of the Registry is to determine if a change in a specific gene increases a person’s risk for a developmental disability. To answer a question like this, researchers need to look at the medical histories and genes of hundreds of patients. It can be like finding a needle in a haystack. But, recent advances give hope that significant new knowledge is within our grasp – but only with your collaboration.

Patients, their families and care givers are essential partners in this project. We can analyze genes and look for patterns underlying rare neurodevelopmental conditions, and what we find can direct us to innovations in diagnostics, treatments and prevention.

Would you like to learn more about current science and medicine as it pertains to the understanding and treatment of  intellectual and developmental disabilities? We invite you to browse this collection of  learning resources. >

Who can participate?

Anyone who has had genetic testing with results showing a change in any of the genes that are thought to affect some aspect of brain development are eligible to participate. There is no age limit.

What does participation involve?

Participants will be asked to:

  • Enroll in the Brain Gene Registry
  • Enroll in GenomeConnect (a separate registry, part of the National Institutes of Health’s ClinGen project which is focused on advancing knowledge on the relationship between genetic changes and disease).
  • Complete online questionnaires.
  • Submit photos of some body features (face, hands, etc.).
  • Participate in a virtual telehealth visit or video interview.
  • Share certain parts of the patient’s electronic health record (diagnosis, genetic test results, lab results, etc.); and any past neuropsychological/educational assessments

Research staff will support and guide participants throughout the enrollment process. Online questionnaires to assess development and behavioral skills will take a total of about 60-90 minutes to complete. Please take your time in completing the questionnaire to your satisfaction. You can pause and your progress will be saved until you are ready to submit it.

The telehealth interview will last about 60 minutes and may include a cognitive assessment, neurological screen, physical screen, and a social-behavioral observation. You will receive detailed information in advance to help you and/or your child prepare for this visit.

What will I get for participating?

Since this is a study looking to discover new information, there might not be any direct benefit for you and your family. By participating, you are contributing to the understanding of how genetic variants impact behavior and development. This is the first step to being able to develop therapies for rare genetic conditions.

As a small token of our appreciation for participating in the BGR, you can receive a gift-card for up to $100.00. The site coordinator will discuss the specifics of compensation during the consent process.

Through your enrollment in GenomeConnect you may have the opportunity to interact with experts studying your/your child’s gene condition. You will also have the option to connect with other participants based on gene or diagnosis and can choose to receive updates about the genetic test results.

How will you keep our information safe and secure?

All records in the Brain Gene Registry will be de-identified. Only investigators and approved study staff at the three lead sites (Harvard/Boston Children’s Hospital, University of North Carolina, and Washington University) and the enrolling institution will have access to identified data. Outside investigators will only have access to de-identified data.

Extreme care has gone into planning the enrollment process for this registry in the interest of patient privacy. A trained research professional will answer any questions you have before you decide to consent to participation. You may withdraw from the program at any time.

Once you agree to participate, you will also be asked to enroll in GenomeConnect, where your information will be de-identified, stored and analyzed with all the other patient records in the Brain Gene Registry. The Registry will be overseen by the Informatics team at Washington University in St Louis.