Participate in Research

Your Participation Matters. Together, We Can Make a Difference.

Research is the key to understanding Tatton Brown Rahman Syndrome (TBRS) and improving care, therapies, and outcomes for individuals living with the condition. The more families that get involved, the faster we can make progress.

We strongly encourage all members of the TBRS Community—patients, families, and caregivers—to participate in research initiatives. Together, we can shape the future of TBRS care and treatment.

Why Your Participation Matters

By participating, you’re helping accelerate discoveries that could improve care and lead to new treatments. Research on TBRS is crucial for:

Understanding how TBRS affects different systems of the body

Identifying effective therapies and treatments

Establishing clinical guidelines for TBRS care

Giving scientists and doctors the tools they need to improve quality of life for individuals with TBRS

Current Research Opportunities

Count Me In for TBRS

Count Me In for TBRS is a global initiative to encourage TBRS families to actively participate in research and share their data. This contact registry helps with:

Building a global community of TBRS patients and families

Facilitating large-scale studies that provide valuable data for researchers

Sign up for Count Me In for TBRS

TBRS and DNMT3A Patient Registry

In 2023, we brought together families and researchers from 17 countries for our first-ever TBRS Summit—a joint Family + Collaborative Research event hosted at Morgan’s Wonderland Camp in Texas. This patient registry helps with:

Gathering de-identified data to support research

Tracking the progression of TBRS in individuals

Connecting patients with ongoing studies and clinical trials

Click here to join the Patient Registry

Biorepository & CRID

The TBRS Biorepository stores biological samples—such as blood, saliva, and skin tissue—from patients to be used in research studies. It can help with:

Providing samples for genetic, molecular, and cellular research

Linking samples to Patient Registry data using Clinical Research IDs (CRID)

Apply to contribute to the Biorepository

Learn more about CRID

Patient Priority Survey

The Patient Priority Survey gathers insights from families to help researchers focus on what matters most to you. This helps ensure that studies are aligned with the community’s needs. It can help with:

Prioritizing research goals and questions

Ensuring that research addresses real-world challenges for families

Take the Patient Priority Survey

Citizen Health

Citizen Health helps families access their own medical records, genetic data, and other health information to participate in research studies. Citizen helps us by:

Making it easier for families to contribute their health data to studies

Facilitating connections with clinical trials

Sign up for Citizen Health

Brain Gene Registry

The Brain Gene Registry is focused on collecting data for research on the neurological aspects of TBRS, including cognitive development and neurological symptoms. This registry helps us with:

Studying the genetic underpinnings of neurodevelopmental aspects of TBRS

Investigating ways to improve cognitive outcomes

Join the Brain Gene Registry

What to Expect

Participating in research is an important step toward advancing the understanding of TBRS. Here’s what to expect when you sign up for a research opportunity:

Informed consent

you’ll receive all necessary information and consent forms before participating.

Confidentiality

Your information will be kept confidential, and only de-identified data will be shared.

Flexible participation

You can choose how involved you’d like to be, and there’s no pressure to continue if it’s not the right fit.

Contact Us