Jill Kiernan summarizes the latest research involving 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.
Tatton Brown Rahman Syndrome is a rare genetic disorder due to mutations in the DNMT3A gene. The disease is named after Doctors Katrina Tatton-Brown and Nazneen Rahman, who have led much of the research. Individuals with TBRS are typically tall, overweight, and with distinctive facial characteristics. Mild to severe intellectual disability is also a common symptom.
The TBRS Community has received grants from NORD to develop a patient registry and a grant from the Chan Zuckerberg Initiative Rare as One Network to advance our understanding of this ultra-rare disease.
To learn more about TBRS, visit tbrsyndrome.org/
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