Jill Kiernan explains Tatton Brown Rahman Syndrome (TBRS). Jill is the executive director of the TBRS Community, a patient advocacy group committed to bringing together families, clinicians, and researchers interested in this rare disease.
TBRS is a rare genetic disorder due to mutations in the DNMT3A gene. The disease is named after Doctors Katrina Tatton-Brown and Nazneen Rahman, but may also be called DNMT3A Overgrowth Syndrome. Individuals with TBRS are typically tall, overweight, and with distinctive facial characteristics. Mild to severe intellectual disability is also a common symptom.
TBRS is an ultra-rare condition. As of 2021, medical professionals have diagnosed approximately 250 people with this condition. Currently, no targeted therapy exists for TBRS, and healthcare providers focus on managing the specific clinical findings in each individual.
To learn more about TBRS, visit tbrsyndrome.org/
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