News – Page 3 – TBRS Community

Need Help Interpreting Your Genetic Report?

We are excited to announce the release of a new YouTube video designed to assist patients and families in understanding their genetic test reports!

This informative video breaks down the complex information found in most genetic reports, providing clear guidance on how to interpret the information provided and understand your genetic variant. Whether you have just received your results or are looking to support a loved one, this resource is tailored to help you navigate the world of genetic testing with ease.

Grab your genetic report and follow along with the video now!

Need Help Interpreting Your Genetic Report? Read More »

New Position: Community and Research Engagement (CARE) Manager

News / kit

We are excited to announce that Kit Church, previously our Research Coordinator, has had a recent position change to:

Community and Research Engagement (CARE) Manager for the TBRS Community!

Kit’s work with the TBRS Community has grown and evolved over the years and this new title better describes her position. Kit communicates with families, clinicians, and researchers. She identifies gaps in support for the global TBRS Community and addresses those gaps with new programming and resources. She creates materials to educate researchers and families on the importance of research involvement, and so much more!

Jill Kiernan, TBRS Community’s Executive Director says “Kit’s contributions are invaluable to our community. She not only develops incredible programs and maintains strong connections with our families and scientists, but she has also become an integral member of the TBRS Community Family. Her love for the families in our community shines through in her work, driving everything she does.”

“Thanks to the TBRS Community for providing me with this opportunity, and thank you to everyone for allowing me into your community!” Kit said. “I will do my best in my new role to provide support for all members of our global community, as well as continue to support the development of our research network. If you have any suggestions for programs that you would like to see, please reach out at [email protected]!”

New Position: Community and Research Engagement (CARE) Manager Read More »

New Family Welcome Packet – A Great Resource for the Community

News / kit

The TBRS Community has designed a New Family Welcome Packet that contains all of the important information on participation in research, community programs, and current knowledge on TBRS.

This packet is designed to support the newly diagnosed, but contains important information for all families in the TBRS Community!

This resource is currently available in English and Spanish (Japanese coming soon), and we are always looking for more translations. Click the buttons below to download in your language!

New Family Welcome Packet – A Great Resource for the Community Read More »

New Publication Highlights Collaborative Efforts for Understanding Epilepsy in Overgrowth-Intellectual Disability Syndromes

News / kit

The Tatton Brown Rahman Syndrome (TBRS) Community and the Malan Syndrome Foundation are proud to announce the publication of a significant new article, “Epilepsy and Overgrowth–Intellectual Disability Syndromes: A Patient Organization Perspective on Collaborating to Accelerate Pathways to Treatment.” This publication introduces the Overgrowth Syndromes Alliance (OSA), a collective effort between the TBRS Community and Malan Syndrome Foundation, uniting patient advocacy organizations and researchers to improve care and identify treatments for rare overgrowth–intellectual disability (OGID) syndromes.

The paper underscores the importance of a patient-first approach, focusing on the needs and priorities of the OGID community. It highlights the underrecognized occurrence of seizures within these syndromes. Additionally, it provides a valuable resource for patients to discuss appropriate screening and care with their primary care providers and neurologists.

The OSA aims to accelerate research and treatment development by fostering collaboration and shared goals among overgrowth patient organizations. This paper includes the OSA research roadmap, a guide that provides the framework for therapeutic development, as well as research tools essential for clinical trial readiness.

This publication is a milestone for the OGID community, offering hope and direction for future research and therapeutic advancements.

New Publication Highlights Collaborative Efforts for Understanding Epilepsy in Overgrowth-Intellectual Disability Syndromes Read More »

Check out the OSA’s new brochure!

News / kit

Exciting news from the Overgrowth Syndromes Alliance!

The Overgrowth Syndromes Alliance (OSA), a collective effort between the TBRS Community and Malan Syndrome Foundation, uniting patient advocacy organizations and researchers to improve care and identify treatments for rare overgrowth–intellectual disability (OGID) syndromes.

We are thrilled to announce the release of a new informational brochure focused on overgrowth-intellectual disability (OGID) syndromes. This resource is dedicated to raising awareness for OGID syndromes, many of which are newly identified and require genetic testing to determine an underlying molecular cause.

We encourage TBRS Community families to download and share this valuable resource with your medical providers. Together, we can enhance understanding, provide better support, and improve care for affected individuals and their families.

Check out the OSA’s new brochure! Read More »

The TBRS Community welcomes Director of Development, Chelsea Spence

News / kit

Chelsea Spence joins the TBRS Community as the new Director of Development, bringing over thirteen years of dedicated experience in philanthropy, fundraising, and nonprofit management.

With a Master’s in Organizational Leadership specializing in Philanthropic Leadership from the University of Denver, Chelsea has a proven track record of driving growth and achieving fundraising targets through innovative campaigns, major gifts, and capital campaigns. Chelsea’s strategic expertise and commitment to developing meaningful relationships with donors are poised to significantly enhance the TBRS Community’s efforts in supporting individuals affected by Tatton Brown Rahman Syndrome. Chelsea is an outdoor enthusiast, enjoying Tennessee’s waterfalls and serving as a Girl Scout troop leader, nurturing the next generation of leaders.

We are excited to have Chelsea’s expertise to help guide the TBRS Community in fundraising and development efforts!

The TBRS Community welcomes Director of Development, Chelsea Spence Read More »