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Applications Open: TBRS Translation Accelerator Grant

We are excited to announce that the TBRS Community is now accepting applications for the TBRS Translation Accelerator Grant!

Two $50,000 grants will be awarded to support and accelerate therapeutic development for Tatton Brown Rahman Syndrome. Translational studies as well as basic science with clear translation potential are welcome. This includes a range of possible studies such as assay development for drug testing, biomarker development for diagnostics, model system refinement, and phenotypic characterization. A successful application should aim to address TBRS patient priories, namely neurocognitive deficits (i.e. intellectual disability, behavioral and communication challenges).

Applications are due by 11:59 PM EST on February 1, 2024. Please contact [email protected] with questions. Please see the attached application information for more details.

Applications Open: TBRS Translation Accelerator Grant Read More »

Weekly Research Updates! – November 10, 2023

Weekly Research Updates! - November 10, 2023

  • Reimbursements for the Summit are all out
    • One left, but unless I have contacted you, all of the reimbursements are out. 
    • Please let me know if there are any issues
  • A couple more genetic reports needed for CB and the Baylor study
    • I have contacted you and will continue to be annoying (sorry!)
  • Changes to registry – including ALL DNMT3A variants
    • There will be changes to the surveys – standardized surveys
    • Old information will be kept! That is not lost information!
    • Once the new surveys are launched, we will let you all know 
    • Please do updates with these once they are launched!
  • Patient Priority Survey – now in Spanish
  • EEG repository 
    • Getting some ideas and brainstorming
    • Ideas for Google drive, vs at academic institutions, etc.
    • Let me know if you have any thoughts or opinions on this 
  • Ciitizen
    • Normally just United States
    • International can sign up and upload their own docs
    • Launching Canada and Australia soon
  • American Epilepsy Society – 2023 Conference

Weekly Research Updates! – November 10, 2023 Read More »

Weekly Research Updates! – November 3, 2023

Weekly Research Updates! - November 3, 2023

  • Collaborations – many ideas, inspired by meeting all of you, reaching out to us and other researchers, reenergized, testament to family involvement and engagement with research community 
  • Joined the Rare Epilepsy Network
    • Free for us to join
    • 25-50% of TBRS patients have experienced at least one seizure 
    • Policy work, resources for epilepsy, shared learning
  • Combined Brain
    • Know about missing samples, boxers, etc
    • Getting variants from me
    • Working on getting those out
  • RR3 – Dec 8 – emphasis on working groups
    • Also announcing 2 research grants for $50k, focus on biomarkers
    • Explanation of biomarkers
  • Looking into biomarkers and endpoints in other disorders to find possibilities for our disorder

Weekly Research Updates! – November 3, 2023 Read More »


Family Fundraisers Make Huge Impact for the TBRS Community

The TBRS community extends heartfelt gratitude to three remarkable families whose recent fundraising events have significantly contributed to TBRS research, education, and support.

Kacee Richter and her family organized a lively cornhole tournament in Texas, raising an impressive $45,000. Terra Clubine and her family also hosted a cornhole tournament in Kansas, gathering more than $27,000 for research through their event. These contributions are vital in advancing our understanding and treatment of TBRS.

The Glenn family led the ‘Stryker Strong’ Golf Tournament, which resulted in a generous donation of $25,000 to the TBRS Community. This family’s commitment exemplifies the power of community-driven initiatives, and helps to fund our education and support programs.

The funds raised by these families will significantly contribute to research projects aimed at unraveling the mysteries of TBRS, improving the lives of those affected. Their efforts serve as an inspiring example, demonstrating that when communities unite, they can make a substantial impact.

We encourage others to follow suit and explore creative ways to fundraise for the TBRS Community. Together, we can continue to improve the lives of those affected by TBRS. If you are interested in 1:1 coaching on how to host a family fundraising event, please reach out to [email protected]

Family Fundraisers Make Huge Impact for the TBRS Community Read More »

Dr_Harrison _Gabel-2

Dr. Harrison Gabel earns the Katherine McMahon Memorial Award from the TBRS Community


Katherine McMahon was a founding board member of The Tatton Brown Rahman Syndrome Community. She followed the stories of each person affected by TBRS like they were her own family. She cheered our accomplishments and cried with us during difficult times. She traveled all the way to England for the first TBRS gathering in 2016 at The Child Growth Foundation Convention, attended the TBRS Community Conference in 2018 in New York, USA, and made time for every other event and fundraiser. Along with her support, she brought her laugh and upbeat energy, which were contagious. Kathy was taken from us by cancer on September 13, 2019, the day after her 55th birthday, and this award was established in 2020 as a way for the TBRS Community to keep Kathy’s spirit alive.

Dr_Harrison _Gabel

The winner of this year’s Katherine McMahon Memorial Award is Dr. Harrison Gabel. He embodies Kathy’s drive to constantly think of others, her passion for easing suffering and spreading light and happiness, and foundational qualities of compassion and selflessness. Dr. Gabel displays these qualities in a different way to Kathy. He is a researcher who consistently goes above and beyond his academic duties to support the TBRS Community and propel people with TBRS ever closer to science-based treatments.

Dr. Gabel has:

● published no fewer than three research papers on TBRS
● recruited at least six labs from various disciplines to collaborate on their own TBRS research, an enormous expansion of the TBRS research network
● successfully advocated for DNMT3A to be included in the Brain Gene Registry
● shared resources developed in his lab with other scientists
● traveled to the Chan Zuckerberg Initiative’s Rare As One meeting in 2022 to present research findings on behalf of the TBRS Community
● presented at every TBRS Family and Collaborative Research Network meeting
● attended and participated in every TBRS Research Roundtable and Scientific Advisory Committee meeting
● volunteered for numerous initiatives of the TBRS Community, including reviewing grant proposals and serving on the hiring committee for a Research Coordinator
● established and helped characterize mouse models of TBRS

In short, Dr. Gabel has shown that solving the scientific mystery of TBRS is about more than publishing papers or securing research funding—although he’s done both successfully. Rather, he has demonstrated a true passion for helping ease the suffering and anxiety of TBRS patients and their families by helping us all understand and confront the underlying realities of the syndrome. On a daily basis, Dr. Gabel exhibits the humanity and generosity that make him more than a researcher studying TBRS. They make him a true ally and friend to our community. And he would no doubt make Kathy proud.

Dr. Harrison Gabel earns the Katherine McMahon Memorial Award from the TBRS Community Read More »

TBRS Community Offers Multiple Opportunities to Participate in Research

Engage in Tatton Brown Rahman Syndrome (TBRS) research and make a meaningful impact. By participating in research efforts, you play a pivotal role in advancing our understanding of TBRS, developing surveillance guidelines, and finding treatment options. Each participant adds to our knowledge, illuminating the path towards a brighter future for those affected by TBRS. Together, we can inspire progress and provide hope to TBRS families. Please see the attached PDF for more information or email [email protected] with questions.

TBRS Community Offers Multiple Opportunities to Participate in Research Read More »


Be a GEM to TBRS: Help Fund Research, Support Families, and Improve Lives


We have an extraordinary opportunity for you to be a hero for those who need your support the most. Become a TBRS GEM (Giver Every Month)! TBRS families are dealing with the unknown, facing multiple health and developmental issues at the same time, and urgently need your help.

By becoming a recurring donor, you have the chance to make a significant impact in the lives of those who face TBRS by funding crucial research, providing vital resources, and ultimately, improving their quality of life.Our dedicated community of scientists, clinicians, and families is motivated and brilliant, and we need your financial support to turn our shared aspirations into reality.

Join us today!
Over the course of a year:

$10 per month allows us to host our TBRS Social and Support Groups
$25 per month funds the collection of one patient sample to our biorepository
$50 per month can send a TBRS Cares Package to 12 families in crisis per year
$100 per month provides the resources to maintain our virtual programming, including live interpretation, so we can be an inclusive, fully supportive global community
$250 per month pays for our TBRS Patient Registry platform for a year, increasing our understanding of TBRS that will lead to crucial developments such as surveillance guidelines and treatment options
$500 per month can create an iPSC line, a valuable research tool based on patient cells to help with projects like testing potential medications for use in people with TBRS

As a TBRS GEM, you will be featured on our website and social media, have access to TBRS GEM exclusive member update meetings, and receive a 10% discount to any of our paid events.

We have a goal of 25 recurring donors. The first 25 to sign up at any level of giving will receive a special gift.

Become a TBRS GEM here:

Be a GEM to TBRS: Help Fund Research, Support Families, and Improve Lives Read More »


Erin Rooker earns the Volunteer of the Year Award from the TBRS Community


In the rare disease world, community engagement and effective communication are essential, and Erin Rooker has truly excelled in these areas. Erin’s tireless efforts in crafting compelling messages and engaging content has been instrumental in bringing the TBRS community closer together. Her passion for marketing has breathed new life into our initiatives and campaigns.

But Erin is more than just a marketing guru. She’s a project manager extraordinaire. Time and time again, she’s proven her ability to juggle multiple tasks, manage projects seamlessly, and ensure that everything runs like a well-oiled machine. Her attention to detail and organizational skills are second to none, making our community run smoothly and effectively.

One of Erin’s most remarkable qualities is her unwavering commitment. She’s always there, available at the drop of a hat, ready to lend a helping hand, provide guidance, or simply offer her warm and encouraging words. Her dedication to the TBRS Community’s success is truly remarkable and inspiring.

What’s even more astonishing is that she manages all of this while holding down a full-time job and raising her beautiful daughter, Morgan. It’s a testament to her incredible work ethic, time management skills, and the immense love and care she pours into every aspect of her life.

Erin’s passion and dedication have not gone unnoticed. She has made a huge mark on the TBRS community. Thank you, Erin!

Erin Rooker earns the Volunteer of the Year Award from the TBRS Community Read More »

Weekly Research Updates! – October 27, 2023

Weekly Research Updates! - October 27, 2023

  • Ciitizen
  • Patient Registry 2.0 – info on changes being made to the Registry
    • we are planning to include other DNMT3A variants
    • We are also getting feedback from those who have gone thru the Registry data to figure out what changes would be helpful for researchers!
  • Regional Coordinators program and Patient Advisory Committee
    • Please message me if you are interested in any of these opportunities ([email protected])
  • We are looking for cardiac and psychiatric specialists to join our Collaborative Research Network
  • Social media posts about research coming (like talking to researchers and recording those questions)
  • We are meeting with COMBINEDBrain to get information on all of the TBRS samples available in the Biorepository
  • Research Roundtable 3 will be happening soon! 
    • We will provide updates on this as they come!

Thanks everyone!

Kit Church, Research Coordinator

Weekly Research Updates! – October 27, 2023 Read More »


2023 TBRS Community Summit

The 2023 TBRS Community Summit is bringing our community back together for the first time since 2011.

This year we are combining our Family Conference and Collaborative Research Network (CRN) Conference into one joint Summit! The event will be held October 11 – 15, 2023 at Morgan’s Wonderland Camp in San Antonio, Texas – the first ever fully accessible camp for people of all needs! For more information please click here for information sheets for both CRN Members and Families. To register please click here. To view the program click here.

Location: Morgan’s Wonderland Camp in San Antonio, Texas
Date: 10/11/23 – 10/15/23
Duration: 5 Days
Time: 5:42 PM – 5:42 PM (EST)

2023 TBRS Community Summit Read More »

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