Author name: tbrsadm

Individuals with a diagnosis of Tatton Brown Rahman Syndrome are eligible to participate in the National Brain-Gene Registry, a large study aimed at understanding the consequences of genetic variants on neurodevelopment. There are 13 sites at academic medical centers and hospitals around the US collaborating on this NIH-funded study, led by Harvard University/Boston Children’s Hospital, the University of North Carolina at Chapel Hill, and Washington University School of Medicine.

Participation includes filling out a questionnaire, having a virtual visit with a study team member, and contributing some medical information, including the patient’s genetic report indicating a variant in the DNMT3A gene.

The information you contribute to the study will help researchers better understand the relationship with genetic variants and neurodevelopmental outcomes. The study is fully remote and takes a total of 2 – 3 hours to complete. They compensate participants $50 at the time of enrollment and an additional $50 after completion of the questionnaires and video visit.

Please contact Virginia at: [email protected] or call 314-620-4542 with questions or to enroll.

We are grateful to these study leaders for taking an interest in TBRS, and to all families who participate!

The TBRS Community is thrilled to announce the Chan Zuckerberg Initiative has selected our organization to be part of the Rare As One Network, a collection of ambitious, patient-led organizations that are driving progress toward understanding and treating rare diseases. The award provides $600,000 in funding over three years to support the TBRS Community’s efforts to support families, advance research, and improve diagnosis and access to resources.

“The Rare As One grant is an incredible opportunity to help us fulfill our mission to find treatments for TBRS,” said Jill Kiernan, the executive director of the TBRS Community, who founded the organization in 2017. Jill’s daughter was one of the first 13 people in the world to be diagnosed in 2014. “We have come so far in developing a truly supportive, global community of families, doctors, and researchers in a few short years, and now we will be able to push ahead at an even faster rate.”

The TBRS Community is among 50 rare disease organizations in the Rare As One Network, which launched in February 2020. In addition to financial support, the Network provides training in strengthening community, building capacity, and promoting collaboration. The Rare As One Network provides opportunities to collaborate with other rare disease organizations.

The TBRS Community advocates for individuals with Tatton Brown Rahman Syndrome, a rare disease caused by variants in the DNMT3A gene. To date, around 250 individuals have been diagnosed with TBRS globally. In 2021, the TBRS Community launched a patient registry to gather medical and developmental information into a single database that will be accessible to researchers—a much-needed resource that aims to help answer fundamental questions about the syndrome.

The TBRS Collaborative Research Network, formed in 2020, represents the world’s top clinical and scientific experts on TBRS. Driven by the priorities of our community members, the TBRS Community partners with these investigators to further research on DNMT3A and TBRS, with the ultimate goal of identifying potential interventions for TBRS.

“For biomedical research in rare diseases to advance quickly and effectively, patients must be full partners with scientists and clinicians in research,” said CZI Head of Science Cori Bargmann. “We’re proud to expand our cohort of Rare As One grantees and further support the rare disease ecosystem as we work towards diagnosis, treatments, and cures together.”

“It is an honor to be among the organizations in the Rare As One Network and to learn from each others’ accomplishments,” said Kacee Richter, the president of the TBRS Community and the mother of seven-year-old Lucas, who has TBRS. “The impact of this grant is immeasurable to patient-led organizations like ours.”

We are excited to announce that we have launched the TBRS Community Patient Registry. The Registry is a series of surveys that ask about the quality of life, health, and developmental history of people diagnosed with TBRS. It is an invaluable tool to help us further our understanding of TBRS and advance research so we can move toward identifying treatments, improving medical care, and formulating educational supports. Our new goal is to have at least 100 registry participants by February 28, 2022. If you complete all of the surveys before February 28, 2022, you will receive an exclusive invitation to “Coffee with Kate.” This is a virtual meeting with Dr. Kate Tatton-Brown, to be held in March via Zoom. Participants can submit questions prior to the event, which Dr. Tatton-Brown will then cover in her talk.
Don’t miss out on this great opportunity to do two amazing things at once – support TBRS research and meet with the world’s foremost authority on TBRS, Dr. Tatton-Brown.
When you complete the TBRS Community Patient Registry, you will receive a $25 Amazon gift card as our thanks to you.