named programs · 6 · from sources
What they call their work
Biorepository & CRID
Stores biological samples (blood, saliva, skin) from TBRS patients linked to clinical data via Clinical Research IDs for use in genetic and molecular research.
Brain Gene Registry
Registry focused on collecting data related to neurological aspects of TBRS, including cognitive development and neurodevelopmental symptoms.
Citizen Health
Program helping families access and contribute their medical and genetic data to research studies and clinical trials.
Count Me In for TBRS
Global contact registry to connect TBRS families with research opportunities and facilitate large-scale data collection.
Patient Priority Survey
Survey tool gathering input from families to align research goals with community needs and priorities.
TBRS and DNMT3A Patient Registry
Global longitudinal database tracking symptoms, diagnoses, and outcomes for individuals with TBRS, HESJAS, or DNMT3A variants; hosted in partnership with NORD.
activities · 4 groups
What they do
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Rare Genetic Disease Research and Advocacy 6 activities
- Advances clinical trial readiness through community engagementBuilds an educated, engaged patient community prepared to participate in clinical research by providing resources, facilitating data sharing, and conducting surveys to understand family priorities and challenges.
- Curates and disseminates scientific literature on TBRSMaintains and shares a curated list of peer-reviewed publications on Tatton Brown Rahman Syndrome to support research and inform the medical and patient communities.
- Maintains a biorepository for TBRS researchOperates a biorepository that collects and stores biological samples—such as blood, saliva, and skin tissue—from patients with TBRS and related DNMT3A conditions. The repository includes over 50 patient samples and supports research through provision of de-identified materials, including induced pluripotent stem cell (iPSC) lines.
- Operates a global patient registry for TBRS and DNMT3A-related conditionsManages a longitudinal, global patient registry in partnership with NORD to collect patient-reported and clinician-confirmed health and diagnostic data from individuals with Tatton Brown Rahman Syndrome, HESJAS, and other DNMT3A variants. The registry supports research and clinical care improvement.
- Operates the Brain Gene Registry for neurological aspects of TBRSCollects data on cognitive development and neurological symptoms in individuals with TBRS to better understand the neurological impact of DNMT3A-related conditions.
- Supports families affected by Tatton Brown Rahman SyndromeProvides direct support to individuals and families affected by Tatton Brown Rahman Syndrome (TBRS) through regional coordinators, private online forums, educational resources, and community engagement platforms. Activities include operating TBRS Connect, a moderated online forum; maintaining a network of volunteer regional coordinators; and distributing fact sheets and research updates.
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Genetic and Neurological Disease Research Funding 1 activity
- Funds research and support initiatives for TBRSProvides financial support for research, education, and family support initiatives related to Tatton Brown Rahman Syndrome. This includes funding research projects and advancing community-based programs.
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Patient and Researcher Conferences 1 activity
- Hosts collaborative research conferences and eventsOrganizes scientific and community events—including the TBRS Summit and Virtual Science Day—to connect families, researchers, and clinicians, share research findings, and promote cross-disciplinary collaboration.
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Biomedical Research and Innovation 1 activity
- Recruits patients for international TBRS research studiesFacilitates participation in research studies by recruiting over 140 patients globally, supporting data sharing, and preparing individuals for clinical trials through initiatives like Count Me In for TBRS.
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financials · form 990 · fy2023
revenue
Total revenue$309K
Contributions & grants$280K90%
Program service revenue$13K4%
Investment income$16K5%
Other revenue$0
expenses
Total expenses$334K
Program expenses87%
Admin / overhead7%
Fundraising6%
Salaries & benefits$152K
Grants paid out$20K
Largest expense lineCompensation
balance sheet
Total assets$868K
Cash$844K
Investments$0
Liabilities$69K
Net assets$799K
Liquid reserves30.4 mo
3 years on record · 2020–2023 · YoY revenue +86.9%
leadership · form 990 part vii · fy2023
Who runs it
paid leadership · 1
| Name | Title | Hours/wk | Compensation |
|---|---|---|---|
| Jill Kiernan | Executive Director | 40 | $76K |
board members · 5
- Erin Rooker — Marketing Manager
- Jennifer York Isaacs — Secretary
- Kacee Richter — President
- Kerry Grens — Vice President
- Thomas Watson — Treasurer
relationships · 27
Who they work with
- Baylor College of Medicine Partner — Hosts and provides access to multiple DNMT3A/TBRS mouse models for research.
- Big Rhyds Partner — Partnered with Big Rhyds on a TBRS fundraiser in Wales.
- Citizen Health Partner — Collaborates to help families access and contribute their medical and genetic data to research studies.
- Dr. Ayala Tovy Partner — Scientific and Medical Advisory Committee member bringing industry and academic research experience from Novartis and Baylor.
- Dr. Harrison Gabel Partner — Scientific and Medical Advisory Committee member contributing expertise in translational medicine and neurology.
- Dr. Irene Valenzuela Partner — Scientific and Medical Advisory Committee member contributing clinical genetics expertise from Vall d’Hebron Hospital.
- Dr. Joseph Malak Partner — Scientific and Medical Advisory Committee member offering pediatric clinical care expertise.
- Dr. Kate Tatton-Brown Partner — Scientific and Medical Advisory Committee member providing guidance on research strategy and scientific rigor.
- Dr. Katherine King Partner — Scientific and Medical Advisory Committee member contributing infectious disease and immunology expertise.
- Dr. Laura Lavery Partner — Scientific and Medical Advisory Committee member providing research insight in molecular and synthetic biology.
- Dr. Marwan Shinawi Partner — Scientific and Medical Advisory Committee member contributing medical genetics expertise.
- Dr. Marçal Pastor Anglada Partner — Scientific and Medical Advisory Committee member contributing biochemical pharmacology expertise.
- Dr. Rachel Rau Partner — Scientific and Medical Advisory Committee member providing neurology and genetics expertise from Seattle Children’s.
- Dr. Rosanna Weksberg Partner — Scientific and Medical Advisory Committee member providing genetics and epigenetics expertise from Sick Kids Hospital.
- Dr. Serge McGraw Partner — Scientific and Medical Advisory Committee member guiding research with expertise in epigenetics and pediatrics.
- Dr. Timothy Ley Partner — Scientific and Medical Advisory Committee member offering hematology and translational research expertise.
- Dr. Vicken Totten Partner — Scientific and Medical Advisory Committee member offering emergency medicine expertise and lived experience as a parent of a child with TBRS.
- Dr. William Gibson Partner — Scientific and Medical Advisory Committee member contributing genetics and rare disease expertise.
- Facebook Partner — Hosts a private Facebook group for families, caregivers, doctors, and researchers to connect and share experiences.
- Jackson Labs Partner — Makes the W297del (W293del in mouse) DNMT3A/TBRS mouse model available for research.
- Morgan’s Wonderland Camp Partner — Hosts the TBRS Summit at Morgan’s Wonderland Camp, a fully accessible camp for people of all needs.
- National Organization for Rare Disorders Partner — Collaborates with the TBRS Community to operate the Patient Registry.
- National Organization for Rare Disorders Partner — Hosts the TBRS and DNMT3A Patient Registry platform and provides technical and research support.
- National Organization for Rare Disorders Partner — Partnership to operate the TBRS & DNMT3A Patient Registry, collecting longitudinal data to support research and improve care.
- Washington University Partner — Hosts and provides access to R882H (R878H in mouse) DNMT3A/TBRS mouse model for research.
- research partners Partner — Collaborates with research partners to better understand TBRS and its links to cancer.
- world's leading experts on TBRS Partner — Collaborates with leading TBRS experts to study the disorder and develop treatments.
strategies · 3
How they approach the work
Named approaches extracted from this org’s sources. Where others share an approach, follow it to see the full set of orgs running it.
- Collaborative Community Model for Integrated Discovery and Caremethodology: collaborative-community-modelBy uniting families, researchers, clinicians, and self-advocates in a shared network, the organization accelerates research and improves care outcomes because cross-sector collaboration enables faster translation of insights into practice and ensures holistic support.
- Integrated Data and Biosample Research Infrastructuremethodology: integrated_data-biosample_researchBy linking longitudinal clinical data and patient-reported phenotypes with biosamples via unique identifiers, the organization enables robust genetic and clinical research because integrated datasets allow scientists to identify patterns, correlations, and potential treatment targets across DNMT3A-related disorders.
- Patient-Centered Research Prioritizationmethodology: patient-centered_researchBy using patient and family input to guide research priorities, the organization ensures that scientific studies address real-world needs and challenges faced by the TBRS community, increasing relevance and impact because research is co-defined by those it affects.