Advancing Research. Supporting Families. Driving Discovery.
The TBRS Community is driving patient-centered research forward! We prioritize what matters most to families, fund the development of critical research tools to de-risk scientific work, and build an engaged, educated patient community ready to participate in studies. We’re actively advancing clinical trial readiness and welcome researchers and clinicians to collaborate with us.
Resources for Clinicians
We provide clinicians with practical tools to better serve patients and families:
TBRS Community Research Roadmap
What Is a Research Roadmap?
A Research Roadmap helps us plan where we’re going, how we’ll get there, and what milestones we need to reach along the way. Just like using a map for a journey, our Roadmap guides our scientific path—step by step, discovery by discovery.
Why We Created It
Communicates our shared goals with the research community
Inspires and aligns scientists, doctors, and families
Keeps our work focused and impactful
Tracks progress toward better treatments
TBRS & DNMT3A Patient Registry
In partnership with the National Organization for Rare Disorders (NORD), our registry collects longitudinal, patient-reported and clinician-confirmed data to power future studies and improve care. Our registry helps to:
Identify key health risks
Understand symptoms and changes across the lifespan
Develop care guidelines and treatment strategies
Prepare for clinical trials
Inform cellular and animal studies
Explore gene therapy, drug development, drug repurposing, and ASO therapy
Powerful Integration: Registry data from many TBRS patients can be linked to their individual biorepository samples, creating a unique data package that accelerates TBRS research and understanding.
Collaborate With Us
The TBRS Community offers everything researchers need to accelerate progress: genetic reports, matched biorepository samples, iPSC lines, patient-reported data, and a recontactable registry. Our families are motivated, research-ready, and educated about the value of participation. Through our Collaborative Research Network, we foster open collaboration, resource sharing, and deep care for the TBRS community.
Academic
researchers
Clinical
trial teams
Pharmaceutical and
biotech partners
Genetic counselors and
diagnostic labs
Patient advocacy and
funding organizations
We offer:
Global family and patient engagement
Recruitment for surveys, studies, and biospecimen collection
Data access
(registry + de-identified samples)
Support from our Scientific and Medical Advisory Committee
Co-authorship and
presentation opportunities
Contact Us
Want to learn more, propose a project, or get involved?
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