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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 »

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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

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 »

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