A Shared Commitment to Find Answers
We still have urgent questions remaining about Tatton Brown Rahman Syndrome (TBRS):
How does TBRS affect different systems of the body?
What clinical guidelines are most effective?
Are there interventions that work better for TBRS?
What pathways can lead us to therapies?
At the TBRS Community, we believe that progress starts with partnership. To this end, we have developed valuable resources to share with collaborators, including patient samples, medical histories, and mouse models. We invite patients, families, and researchers to be part of the discovery process together.
Our Approach to Patient-Centered Research
We prioritize the voices of those living with TBRS. Through our Patient Priorities Survey, we identify what matters most to families and share those priorities with the scientific community. To support these goals, we’ve developed a Research Toolbox with valuable resources for advancing TBRS science.
TBRS & DNMT3A
Patient Registry
Launched in 2021 in collaboration with the National Organization for Rare Disorders (NORD), our Patient Registry is a secure, global database collecting health and diagnostic information from individuals with TBRS and related DNMT3A conditions.
The registry functions as a natural history study, meaning it tracks symptoms over time to better understand the evolution of TBRS.
What We’ve Learned So Far:
There are over 90 known DNMT3A variants that cause TBRS
Nearly 50% of participants experience seizures
Over 50% report cardiac involvement
We’ve recently expanded the Registry to include all germline DNMT3A variants, including those linked to Heyn-Sproul-Jackson Syndrome (HESJAS) and other phenotypes.
Registry data is linked to our Biorepository samples using the Clinical Research ID (CRID). Researchers can apply for access to Patient Registry data for use in their studies.
TBRS Biorepository
We have collected over 50 patient and control samples, which can be linked to patient registry data, creating a powerful data set to accelerate TBRS research. All samples are linked to corresponding Patient Registry data using the CRID system. Available samples include:
Mouse Models
Several DNMT3A / TBRS mouse models are available for research use. Below are currently available models, related publications, and contact details:
Clinical Research ID (CRID)
The CRID is a unique, de-identified identifier used to connect biological samples and patient data while protecting privacy.
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