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October 6, 2026
For many individuals and families affected by Tatton Brown Rahman Syndrome (TBRS), diagnosis is delayed or never happens at all. Some individuals remain undiagnosed for years, while others are misdiagnosed with related conditions. These gaps in diagnosis limit access to appropriate surveillance, expert care, and connection to research and community support.
To address this challenge, the TBRS Community is collaborating with Stanford Medicine and Biohub on a three-year initiative focused on increasing the rate of diagnosis of TBRS and other overgrowth syndromes through the development of AI-driven screening tools.
“Too many individuals with TBRS are still undiagnosed or misdiagnosed, particularly adolescents and adults,” said Jill Kiernan, Founder and Executive Director of the TBRS Community. “By collaborating with Stanford Medicine and Biohub, we have an opportunity to help identify people who may be living with an undiagnosed overgrowth syndrome and connect them to genetic testing, expert care, and the supports they deserve.”
About the collaboration
Stanford Medicine, in partnership with Biohub, is leading an initiative that applies artificial intelligence to clinical data to identify patterns suggestive of rare genetic conditions. Rather than replacing genetic testing, these tools are designed to flag individuals who may benefit from further evaluation, helping clinicians recognize potential overgrowth syndromes that might otherwise be missed.
The project will proceed in three phases:
● Year 1: Development and testing within a Stanford patient population
● Year 2: Expansion to larger, nationwide datasets
● Year 3: Development of disease-area screening tools and clinician outreach to help identify undiagnosed patients
Why this collaboration matters for TBRS and overgrowth syndromes
TBRS is caused by variants in the DNMT3A gene and shares overlapping features with other overgrowth syndromes. This overlap can make diagnosis challenging, particularly for individuals who were evaluated before broader access to genetic testing or who present with atypical features.
This collaboration is exploring a screening approach that focuses on identifying overgrowth syndromes more broadly, with the understanding that genetic testing can then differentiate between specific diagnoses, including TBRS. This strategy has the potential to significantly increase the number of individuals who receive an accurate diagnosis.
For the TBRS Community, increasing the rate of diagnosis means:
● More individuals receiving appropriate medical surveillance, including cardiac and cancer screening
● Earlier and more consistent access to expert, condition-specific care
● A stronger understanding of the natural history of TBRS across the lifespan
● Expanded opportunities for research participation and future clinical trials
● Greater connection to the TBRS Community for individuals and families who may not yet know they are affected
What comes next
Stanford Medicine is currently working with Rare As One organizations to pilot methods and refine the initiative’s design. The TBRS Community is an active collaborator in this effort, contributing patient-centered expertise and helping ensure that the work reflects real-world diagnostic challenges faced by families.
We will continue to share updates as this collaboration advances. This work represents an important step toward identifying more individuals with TBRS and ensuring they have access to the care, information, and community they need.
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