irs program accomplishments · form 990 part iii · fy2024
What they reported doing
- #1 primary $33KCOLLECTING PATIENT SAMPLES FROM THE ZTTK COMMUNITY TO RESEARCH DRUG REPURPOSING WITH UNRAVEL BIOSCIENCES.
- #2 $10KANNUAL FAMILY AND RESEARCH CONFERENCE
named programs · 2 · from sources
What they call their work
Annual Family and Research Conference
Gathers families affected by ZTTK syndrome and researchers to share updates, experiences, and scientific findings.
Patient Research Initiative
Collects patient samples and data from the ZTTK community to support drug repurposing research in partnership with Unravel Biosciences.
activities · 5 groups
What they do
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Rare Genetic Disease Research and Advocacy 9 activities
- Build support systems for the global ZTTK communityBuilds global support systems for individuals and families affected by ZTTK syndrome through community engagement, resource sharing, and network development.
- Conduct molecular and clinical research on ZTTK syndromeConducts research using molecular biology, cell biology, genomic technologies, and mouse models to understand the molecular mechanisms of SON gene function and the impact of SON variants. Also conducts clinician surveys and Zoom meetings to gather data on symptoms, treatments, and research needs.
- Develop natural history studies for ZTTK syndromeDevelops natural history studies for individuals with ZTTK variants through partnerships with external organizations to accelerate research, therapy, and drug development.
- Facilitate patient data collection for ZTTK researchPartners with Citizen Health and Rare-X to collect and contribute patient data—both from U.S. and international families—to natural history studies and research databases that support therapy and drug development for ZTTK syndrome.
- Identify and recruit individuals with ZTTK syndrome for researchIdentifies individuals with ZTTK syndrome through global outreach and community engagement, having identified over 300 patients, and recruits them into research and natural history studies via direct outreach and patient registries.
- Lead collaborative research to define ZTTK syndromeInitiated and led a multi-group collaboration of over 60 clinicians, genetic counselors, and researchers to identify the pathogenic role of SON mutations, contributing to the scientific definition and diagnosis of ZTTK syndrome.
- Operate patient support and connection programsOperates a contact registry to connect individuals with research opportunities, a private Facebook group for peer support among parents and caregivers, and a global network of ZTTK Ambassadors to provide local resources and community connection.
- Raise awareness about ZTTK syndromeConducts advocacy efforts to raise public and medical community awareness about ZTTK syndrome.
- Support drug repurposing research through patient sample collectionCollects patient samples from the ZTTK community to support drug repurposing research in collaboration with Unravel Biosciences.
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Genetic and Neurological Disease Research Funding 1 activity
- Fund scientific research on ZTTK syndromeFunds cutting-edge scientific research to accelerate the development of treatments and a cure for ZTTK syndrome.
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Patient and Researcher Conferences 1 activity
- Organize annual family and research conferenceOrganizes an annual conference that brings together families and researchers in the ZTTK community to share findings, build connections, and advance research.
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Community Resource Navigation and Support Services 1 activity
- Provide family advocacy and resource navigation supportProvides advocacy support to help families coordinate medical evaluations and appointments, and connects families to state-specific resources—including food, housing, and medical support—via the Unite Us platform.
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Uncategorized 1 activity
- Create educational materials for newly diagnosed familiesDeveloped a draft educational guide and storybook for newly diagnosed families to help them understand ZTTK syndrome and related medical needs.
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financials · form 990 · fy2024
revenue
Total revenue$524K
Contributions & grants$524K100%
Program service revenue$00%
Investment income$00%
Other revenue$0
expenses
Total expenses$47K
Program expenses92%
Admin / overhead8%
Fundraising0%
Salaries & benefits$0
Grants paid out$0
Largest expense lineFacilities
balance sheet
Total assets$489K
Cash$486K
Investments$0
Liabilities$0
Net assets$489K
Liquid reserves124.1 mo
1 years on record · 2024–2024
leadership · form 990 part vii · fy2024
Who runs it
board members · 8
- ADA LIO — SECRETARY AND FUNDRAISING COMMITTEE CHAIR
- ANDREA MACHADO — AMBASSADOR COMMITTEE CHAIR
- CASEY GANER — FOUNDATION TREASURER FINANCE AND AUDIT COMMITTEE C
- DR ERIN EUN-YOUNG AHN PHD — CO-CHAIR OF THE SCIENTIFIC AND CLINICAL ADVISORY B
- FRANCISCO RODRIGUEZ — MARKETING COMMITTEE
- KERRY TIRRELL — VICE PRESIDENT AND VICE CHAIR OF THE BOARD OF DIRE
- NATHAN GUO — SCIENTIFIC COMMITTEE CHAIR
- SHANNON BOYLE — PRESIDENT AND CHAIR OF THE BOARD OF DIRECTORS
relationships · 33
Who they work with
- Adela-Elana Stoica Partner — Represents the foundation in Romania and Italy, supporting families in the region.
- Ana María Gómez Martín Partner — Spain ambassador who provides guidance to families based on personal and professional experience with ZTTK syndrome.
- Andrea Machado Partner — Serves as Portugal ambassador and Chair of the ZTTK Ambassadors, facilitating family connections and support.
- Christine Knecht Partner — Germany ambassador providing local support to ZTTK families and fostering community connections.
- Citizen Health Partner — Collaborates on natural history studies and research initiatives for ZTTK syndrome.
- Citizen Health Partner — Collaborates to collect patient data for natural history studies and ZTTK research database.
- Citizen Health Partner — Partner organization for ZTTK research database participation.
- Connected Care Network Partner — Partner organization offering emotional and practical support to families affected by child neurology disorders.
- Courageous Parents Network Partner — Provides educational resources to help parents advocate for their children with medical conditions.
- Deciphering Developmental Disorders (DDD) study Partner — Collaborated with the DDD study, which contributed to the diagnosis of a board member's child with ZTTK syndrome.
- Dingemans et al Partner — Collaborates with researchers to study the phenotypic spectrum of ZTTK through published research.
- Dr. Zahide Alaçam Partner — Member of the ZTTK Medical Advisory Board and Turkey representative for the foundation.
- Feng Wen Partner — China ambassador providing support and connection for families affected by ZTTK syndrome.
- Hidden Disability Sunflower Partner — Provides a universally recognizable lanyard indicating non-visible disabilities to promote understanding and support.
- Jemma Cochrane Partner — UK and Ireland ambassador supporting families affected by ZTTK syndrome.
- Kerry Tirrell Partner — Facebook Group Administrator supporting the foundation's online community for parents and caregivers.
- Make-A-Wish Foundation Partner — Grants wishes to children aged 2.5 to 18 to provide hope, strength, and joy during medical treatment.
- Martha Dravitzki Partner — Active ambassador in New Zealand, connecting families through support groups and sharing knowledge on education and health services.
- Michiel De Wolf Partner — Belgium ambassador for the ZTTK SON-Shine Foundation.
- NORD Partner — Produces the NORDpod podcast featuring stories and news about rare disease care, advocacy, and research.
- Nathalie Grataloup Partner — France ambassador organizing family meetups and sharing long-term care experience with ZTTK families.
- Ola Habiak Partner — Poland ambassador supporting families navigating rare disease care and treatment options.
- Rare-X Partner — Collaborates on data collection for natural history studies to accelerate ZTTK research and therapy development.
- Rare-X Partner — Partner organization for ZTTK data collection program.
- Reem Hamade Partner — Represents the foundation in the MENA region, promoting awareness and acceptance of different abilities.
- Scripps Research Institute Partner — Where Dr. Erin Eun-Young Ahn began her study on SON as a postdoctoral fellow, leading to the identification of SON’s role in RNA splicing.
- Shannon Boyle Partner — Contact person for clinician inquiries related to the survey and Zoom meetings.
- Trace Nearhos Partner — Australia ambassador advocating for inclusive lives for people with disability and supporting ZTTK families.
- UMass Chan Medical School Partner — Produces the "Rare Diseases, Real Stories" podcast highlighting family journeys and research collaborations.
- Unite Us Partner — ZTTK SON-Shine Foundation subscribes to and provides families access to Unite Us for resource navigation.
+ 3 more
strategies · 2
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.
- Family- and Community-Led Support Modelmethodology: family_led_supportBy empowering families as advocates and building peer networks through local ambassadors and coordinated referrals, the foundation reduces isolation and expands access to care, because lived experience and community trust are critical to supporting families in a rare disease context with limited clinical awareness.
- Research-Driven Cure Developmentmethodology: research_driven_cure_developmentBy accelerating molecular, genomic, and clinical research — including natural history studies and patient-powered data collection — the foundation advances understanding of ZTTK syndrome to enable drug repurposing, therapy development, and ultimately a cure, because robust scientific evidence is essential to attract investment and guide treatment innovation.