irs program accomplishments · form 990 part iii · fy2022
What they reported doing
- #2 $4KSERVICES RELATED TO ASSISTING PATIENTS IN REGISTERING WITH NORD (THE NATIONAL ORGANIZATION FOR RARE DISORDERS) AND TO SUPPORT KAT6A FAMILIES AROUND THE WORLD VIA EDUCATION AND CONFERENCE CALLS WITH DONORS.
named programs · 4 · from sources
What they call their work
Empowered Grant Program
Provides financial assistance for therapeutic equipment and services to families affected by KAT6 disorders
KAT6 Research Network
Supports international research collaborations on KAT6A and KAT6B, including studies on disease mechanisms, biomarkers, and potential therapies
KAT6A and KAT6B Patient Registry
Longitudinal study launched in 2019 through NORD to collect data on KAT6 syndromes, enabling research into disease characteristics and progression
KAT6A and KAT6B Virtual Symposium Series
Semi-annual gatherings of KAT6 researchers to share findings and coordinate scientific progress
activities · 6 groups
What they do
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Familial Support for Rare Genetic Conditions 2 activities
- Operating a multidisciplinary clinical care program at Boston Children's HospitalRuns a specialized clinical program providing comprehensive, coordinated care for patients diagnosed with KAT6A or KAT6B syndromes, integrating medical, developmental, and therapeutic services.
- Providing direct support to families affected by KAT6A and KAT6B syndromesOffers global support services including education, conference calls, and assistance with patient registration through NORD (National Organization for Rare Disorders). Includes ongoing volunteer support to help families access therapies and assistive equipment.
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Fundraising and Financial Support for IDD Services 1 activity
- Administering the Empowered Grant Program for therapeutic equipment and servicesFunds and manages a grant program that provides financial assistance for assistive equipment, technology, and therapy treatments for individuals with KAT6A and KAT6B syndromes.
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Genetic and Neurological Disease Research Funding 1 activity
- Funding research on KAT6A and KAT6B syndromesProvides financial support for scientific research into disease mechanisms, treatments, and biomarkers for KAT6A and KAT6B syndromes, including funding studies at UCLA, Spain, and eight new research projects in 2025. Also funded the first clinical description of KAT6A syndrome (2015) and the largest cohort study to date (2019).
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Charity Event Organization 1 activity
- Hosting the annual KATwalk fundraising eventOrganizes an annual KATwalk event that raises funds and awareness for KAT6-related causes; the 2024 event raised $200,000 USD.
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Rare Genetic Disease Research and Advocacy 1 activity
- Operating the KAT6A/KAT6B Patient Registry and natural history studyRuns a longitudinal patient registry launched in 2019 to collect and analyze health, development, and clinical data on individuals with KAT6A and KAT6B syndromes, supporting therapeutics development and care improvement. Includes biobanking of biospecimens and family-reported survey data on symptoms, medications, and care.
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Patient and Researcher Conferences 1 activity
- Organizing the KAT6A and KAT6B Virtual Symposium Series for researchersHosts a semi-annual virtual symposium series that convenes researchers to share findings, collaborate, and advance scientific understanding of KAT6A and KAT6B syndromes.
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financials · form 990 · fy2024
revenue
Total revenue$546K
Contributions & grants$513K94%
Program service revenue$00%
Investment income$41K8%
Other revenue$-9K
expenses
Total expenses$216K
Program expenses80%
Admin / overhead6%
Fundraising13%
Salaries & benefits$0
Grants paid out$12K
Largest expense lineProfessional Fees
balance sheet
Total assets$1.33M
Cash$1.33M
Investments$0
Liabilities$64
Net assets$1.33M
Liquid reserves73.8 mo
5 years on record · 2020–2024 · YoY revenue +13.8%
leadership · form 990 part vii · fy2024
Who runs it
board members · 9
- ANDREW RANKIN — Board Member
- DAVID WOODBURY — Secretary
- EMILE NAJM — President & CEO
- JORDAN MULLER — Board Chair
- KAREN GINSBURG — Treasurer
- KATIE LAROW BROWN — Board Member
- KEVIN YOUNG — BOARD DIRECTOR
- MAUREEN MARTINI — BOARD DIRECTOR
- MYRIA NORMANN — BOARD DIRECTOR
relationships · 15
Who they work with
- Asociación KAT6A Partner — Collaborates with the KAT6 Foundation to support research on vitamin B5 and L-carnitine supplementation in KAT6A syndrome
- Boston Children's Hospital Partner — Hosts the KAT6 Clinic, a multidisciplinary clinical program for patients with KAT6A or KAT6B syndromes.
- Chan Zuckerberg Initiative Funder — Awarded the Rare as One grant to the KAT6 Foundation in 2020 and 2022.
- Facebook Partner — Uses Facebook as a platform to share information, host a support group, and connect families affected by KAT6 syndromes.
- Instagram Partner — Uses Instagram to share information and raise awareness about KAT6 syndromes.
- LinkedIn Partner — Uses LinkedIn to share professional updates and expand outreach for KAT6 syndrome awareness.
- Murdoch Children’s Research Institute Partner — Collaborates internationally on KAT6 research through the work of Dr. Tanya Tripathi.
- National Organization for Rare Disorders Partner — Assists patients in registering with NORD to access rare disorder resources.
- National Organization of Rare Diseases Partner — Partnered to launch the KAT6A/KAT6B Patient Registry in 2019
- Rare Diseases Models and Mechanisms Network Partner — Collaborates on developing fruit fly models to study neurological effects of KAT6A and KAT6B mutations
- Serrano Lab Partner — Collaborates on patient-partnered basic research initiatives, including survey design and stem cell research.
- UCLA Partner — Collaborates with Dr. Arboleda’s lab to conduct early research on KAT6A.
- X Partner — Uses X (formerly Twitter) to share updates and engage with the KAT6 community.
- YouTube Partner — Uses YouTube to disseminate educational content, seminars, talks, and clinics related to KAT6 syndromes.
- kat6aempowered@gmail.com Partner — Point of contact for requesting application translations for the Empowered Grant Program.
strategies · 5
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.
- Cohort-Based Genetic Researchmethodology: cohort_studyBy supporting cohort studies of individuals with KAT6B mutations, the foundation enables genotype-phenotype correlation research, because longitudinal analysis of genetically defined groups clarifies disease mechanisms and informs future therapeutic development.
- Family-Driven Research & Advocacy Networkmethodology: family_driven_networkBy mobilizing families through grassroots networking and parent-led advocacy, the foundation identifies affected individuals and drives systemic change, because empowered family networks increase research participation, resource sharing, and policy influence beyond what clinical or institutional channels can achieve alone.
- Individualized Support Through Grantmakingmethodology: individualized_support_grantmakingBy funding assistive tools and therapies tailored to individual needs, the foundation improves developmental outcomes and independence, because targeted financial support removes barriers to critical interventions that are often inaccessible for families affected by rare disorders.
- Patient-Partnered Research Modelmethodology: patient_partnered_researchBy co-developing data collection tools with families and integrating them into daily care routines, the foundation improves research quality while reducing participant burden, because involving patients in research design increases usability, adherence, and relevance of the data collected.
- Patient-Powered Research Registrymethodology: patient_powered_research_registryBy collecting longitudinal health and development data directly from families, the foundation accelerates research and improves clinical understanding of KAT6A/KAT6B syndromes, because patient-registered data enables comprehensive, real-world insights that drive research priorities and care guidelines.