Author name: tbrsadm

TBRS Community Patient Registry Data Are Now Available

Applications are open to TBRS Collaborative Research Network Members to access registry data!

The TBRS Community Patient Registry collects disease-specific natural history data about individuals with TBRS, with the goal of improving the understanding of TBRS and informing treatment development. Registry questionnaires were built from common data element standards and cover the following topics:

  • Socio-demographics
  • Genetics
  • Development and medical history
  • Treatment and disease progression
  • Quality of life

If you would like access to the NORD Registry data for a research project, please apply here.

The TBRS Community’s fundraising efforts have made it possible to offer Registry results at no charge to academic researchers. Your donation can help us continue to share data widely. Please consider supporting us.

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The TBRS Community is Seeking a Science Director

Description

20 hours per week, remote contract work with occasional travel, $50/hour. This is a consultant position with purpose – the chance to improve the lives of people with a rare disease. Working with our collaborative network of clinicians and scientists who study Tatton Brown Rahman Syndrome (TBRS), the Science Director will advance research toward understanding and treating TBRS. At the TBRS Community we offer a supportive, inclusive environment where staff, consultants, and volunteers can apply their talents to make a difference in others’ lives.

About Us

The TBRS Community is a nonprofit organization that supports individuals with Tatton Brown Rahman Syndrome and advances research on this rare disorder. With the ultimate goal of identifying treatments and cures for TBRS, our organization created the TBRS Community Collaborative Research Network (TBRS CRN), a group of scientists, clinicians, families, and other stakeholders who are experts on TBRS and DNMT3A (the gene that causes TBRS). The TBRS CRN members collaborate by sharing their expertise and resources with the aim of expediting treatment development for TBRS.

Our Values

The TBRS Community is committed to developing a supportive, inclusive, and collaborative network of families, clinicians, researchers, and other stakeholders. We serve the patient above all else. As a patient-led organization, we listen to our patient community, keep their priorities at the center of our work, and develop programming to support their needs. We have a compassionate culture within our community, united by our shared experience of loving people with a rare disease.

The Opportunity

As Scientific Director you will provide visionary leadership for our scientific efforts, with a focus on translational research. You will collaborate with the TBRS CRN Members to facilitate patient-focused research, identify and strengthen collaborations with academic institutions and biopharma, and identify pathways to treatment for TBRS. These efforts will chart a course along our research roadmap to ultimately result in clinical trials for TBRS. Presently, there are no therapeutic options in development for TBRS. Our CRN Members have made tremendous strides in understanding the clinical presentation of TBRS and its underlying etiology, which has positioned us to now take the next step toward pursuing therapies. The Scientific Director will lead us into this exciting new phase of research.

Click below for the full job description and application information:

Science Director Job Description 4 2023

 

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2022-Challenge-Shirt-Design

2023 TBRS Exercise Challenge

The 2023 TBRS Community Summit is bringing our community back together for the first time since 2019!

 

Event:
Location: 
Date: 04/01/23 – 04/30/23
Duration: 30 Days
Time: 7:22 PM – 7:22 PM (EST)

2022-Challenge-Shirt-DesignClick to view images

Who Can Participate? Anyone in the TBRS Community, Friends and Family

When is it?  Begin gathering your pledges in March and start your Challenge in April (you pick the start and end date that works for you).

How Does it Work? 

 – Select any movement activity you would like to do. Walking, jogging, bicycling, riding in a wagon/stroller, swimming, dancing – really any activity of your choice that promotes movement!

 – Select a realistic goal. Example: I will walk “10” miles, or I will ride my bike for “120 minutes” in the month of April.

 – Ask family, friends, neighbors, coworkers to sponsor you.

 – Track sponsors on the printable sheet and/or using the online platform:
https://tbrscommunity-bloom.kindful.com/tbrs-exercise-challenge-2023

 – Track your own movement activity progress.

 – When your Challenge is finished, everyone is responsible to collect from their individual sponsors.

Why Donate?  The TBRS Community’s goal is to advance TBRS research through the TBRS Collaborative Research Network and a global patient registry. We bring together TBRS families by hosting an annual Family Conference, providing education and emotional support, awarding scholarships to people with TBRS, sending care packages to families in crisis, and so much more. Donations are tax deductible.

 

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2022 TBRS Family Conference

The 2022 TBRS Community Virtual Family Conference will feature talks from clinicians and researchers including Dr. Kate Tatton-Brown, Dr. Harrison Gabel, Dr. Serge McGraw, Dr. Karine Doiron, Dr. Rachel Rau, Dr. Ayala Tovy, Jaime Reyes, Dr. Rosanna Weksberg, and Dr. Zain Awamleh . Join us to receive new updates from the TBRS Community Patient Registry, meet other families, and get your questions answered.

Category:      Event
Location:      Virtual Event
Date:              10/07/22 – 10/08/22
Duration:        2 Days
Time:              5:00 PM – 3:00 PM (EST)

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TBRS Collaborative Research Network Conference, 2022

Scientists and clinicians will gather to discuss TBRS, DNMT3A, and related topics.

Category:      Event
Location:      Virtual
Date:              10/07/22 – 10/08/22
Duration:        1 Days
Time:             10:00 AM – 4:00 PM (EST)

 

Click to view images

Key note speaker will be Prof. Adrian Bird, discussing The Biology of Rett Syndrome

This virtual event will feature presentations by scientists and clinicians who are experts on TBRS, DNMT3A (the gene that causes TBRS), epigenetics, overgrowth and neurodevelopmental disorders, and related topics. The goals of the meeting are to foster discussion among this group of scholars and develop research priorities for understanding and, ultimately, treating TBRS. The conference will be a mix of pre-recorded talks, live Q&As, and open discussion forums. To encourage collaboration and allow for the presentation of preliminary data and work in progress, this event is not open to the public.

TBRS Community is putting out a call for posters for the Conference! We are looking for presentations that reflect research on either Tatton Brown Rahman Syndrome, DNMT3a, or related issues. Please submit through this link. Rules for submission are linked here.

Please email [email protected] if you would like an invitation to the meeting.

Thanks to our generous funders, registration is free. We appreciate your donations to help us continue valuable programming to advance TBRS research. Donate here.

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Kiernan Family Cornhole Tournament – Benefitting the TBRS Community

Food, Fun, Music, Wine, and Cornhole! All to benefit the TBRS Community!

Category:      Event
Location:     Millbrook Vineyards and Winery, 26                                  Wing Road, Millbrook, NY
Date:              08/14/22 – 08/14/22
Duration:        1 Days
Time:              4:00 PM – 8:00 PM (EST)

Click to view images

Come one, come all! Join us for a day of fun, food trucks, drinks, music, and cornhole on August 14, 2022 from 4:00 – 8:00 PM EDT at the Millbrook Vineyards and Winery on 26 Wing Road, Millbrook, NY. All proceeds will benefit the TBRS Community. Register for cornhole here. 2 people per team, $80 per team. Double Elimination. 1st Prize $300, 2nd Prize $200, 3rd Prize $100. You don’t have to play cornhole to attend. There is lots of fun to be had. Bring your friends!

Check out our sponsorship form for details on how to support this event.

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