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A Year of Triumph: How the TBRS Community Transformed Support Into Action in 2023

As we start a new year the TBRS Community is proud to reflect on the past year marked by unprecedented achievements and groundbreaking initiatives. Thanks to the unwavering support and generosity of our donors, 2023 was a year of significant progress in our quest to improve the lives of individuals affected by Tatton Brown Rahman Syndrome (TBRS).

Elevating our Science Program: A Pillar of Progress

In 2023, the TBRS Community significantly bolstered our science program, marked by a pivotal addition to our team, Dr. Eric Diehl, our new Science Director, whose leadership has been crucial in pinpointing research gaps and driving efforts towards innovative treatments for TBRS. We’ve also funded critical research aimed at refining TBRS diagnosis and identifying key biomarkers essential for treatment development. We announced our call for proposals for the $100,000 TBRS Accelerator Grants, two grants to fund innovative research seeking to find treatments for TBRS. These strides in our science program underscore our commitment to transforming research into actionable solutions, directly benefiting patients and their families, thanks to the steadfast support of our donors.

Uniting for a Cause: Collaborative Research Efforts

We expanded our Collaborative Research Network, engaging with 10 new researchers and reconnecting with over 40 esteemed collaborators. Our amazing Research Coordinator, Kit Church, planned three Research Roundtables to enhance collaboration and insight sharing within our Collaborative Research Network. This collective effort has set the stage for accelerated treatment development for TBRS, fostering a rich environment of innovation and shared knowledge.

Advancing TBRS Research: The Launch of the Biorepository

A cornerstone of our 2023 achievements was the successful launch of the TBRS Community Biorepository. With 32 patient and 10 control samples collected, this resource has become a vital tool for researchers worldwide, enabling them to fast-track their studies on TBRS. Our heartfelt thanks go to the families who contributed, playing a crucial role in this scientific advancement.

Strengthening Networks through Collaboration

Our community’s impact has grown through strategic partnerships, including joining the Rare Epilepsy Network (REN) and forming the Overgrowth Syndromes Alliance (OSA) with the Malan Syndrome Foundation. These collaborations underscore our commitment to addressing the challenges faced by TBRS patients with seizures and aligning research priorities across overgrowth-intellectual disability syndromes.

Empowering Patients: The New Patient Priority Survey

In a bid to ensure research reflects the needs of our community, we launched a new patient priority survey, garnering 406 responses from people with Overgrowth Intellectual Disability Syndromes. 112 of these responses were from TBRS patients and family members. The insights gained have been shared with researchers and presented at multiple conferences, advocating for a patient-centered approach to TBRS research.

Raising Awareness: Spreading the Word on TBRS

Our efforts to increase TBRS awareness took us to various prestigious conferences including Washington University Rare Disease Day, the NORD Breakthrough Summit, the Global Genes Conference, and the CZI Science in Society convening where we presented TBRS-focused discussions, sharing knowledge and elevating the profile of TBRS within the global medical and research communities.

Sharing Knowledge: Hosting the TBRS Summit

The highlight of the year was the first in-person TBRS Summit since 2019, uniting 187 patients and family members with 27 scientists. The Summit was translated into 5 languages so 18 non-English speaking families and scientists could participate. This event was a melting pot of ideas, experiences, and hope, making strides in bridging the gap between families and researchers. 

Looking Ahead: Enhancing Our Digital Presence

With an eye on the future, we’ve added accessibility features to our website and are in the process of a redesign. This will include a scientific platform for our Collaborative Research Network, providing updated information and resources to better support our TBRS families.

A Heartfelt Thank You

The milestones achieved in 2023 were made possible by the dedication and generosity of our community. Your support fuels our mission and enables us to make a tangible difference in the lives of those affected by TBRS. As we look to 2024, we are filled with hope and gratitude. Together, we are forging a path towards a brighter future for all individuals with TBRS.

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