Smith-Kingsmore Syndrome Foundation

What Smith-Kingsmore Syndrome Foundation does

The Smith-Kingsmore Syndrome Foundation is a US-based 501(c)(3) non-profit founded in 2019 and headquartered in the Cincinnati, Ohio area, dedicated to improving outcomes for individuals affected by Smith-Kingsmore syndrome — an ultra-rare neurodevelopmental disorder caused by mutations in the mTOR gene. The foundation operates as the sole global non-profit exclusively funding SKS research, and its core deliverables cluster around four programs: (1) the SKS Global Patient Registry, hosted on Sanford CoRDS, which aggregates de-identified clinical data and feeds it to academic researchers; (2) a research grants program that has seeded two academic labs (Dr. Andrew Liu at the University of Florida and Dr. Joanna Chiu at UC Davis) and helped catalyze a landmark $2.4M NIH grant — the first major federal investment in the syndrome; (3) educational assets led by the Family & Medical Provider Guide published in 24 languages; and (4) community infrastructure comprising biennial international family-research conferences at leading pediatric hospitals (Cincinnati Children's, Lurie Children's), monthly multilingual virtual meetups, a private Facebook community, and a YouTube channel for conference content.

The foundation's revenue model is donations-driven: tax-deductible individual contributions processed through Network for Good (with anchor campaigns including the August "Sunniest Day of Hope" tied to SKS Awareness Day on August 15 and Giving Tuesday), supplemented by merchandise sales via Bonfire, in-kind donations, and shares. It is a member of the Chan Zuckerberg Initiative's #RareAsOne Network and works closely with a small set of academic medical centers — CCHMC, Lurie Children's, UCLA, and Seattle Children's Research Institute — that host the Natural History Study, brain MRI research, and conference programming. The organization runs on a lean 8-employee operating base and has connected 350 families across 49 countries since inception, making it the de facto coordinating body for the SKS community.

Name

Smith-Kingsmore Syndrome Foundation

Legal name

Smith-Kingsmore Syndrome Foundation

Website

https://smithkingsmore.org

Company type

Private

Founded year

2019

Operating status

Operating

Headcount range

1–10 employees

Short description

The Smith-Kingsmore Syndrome Foundation is a US-based non-profit founded in 2019 that serves as the sole global organization funding research into the ultra-rare mTOR-related Smith-Kingsmore syndrome, operating a global patient registry, research grants program, and community of 350 affected families across 49 countries.

Ownership category

akta.pro rank

Product category

Rare Disease Patient Advocacy Foundation

NAICS

Voluntary Health Organizations (813212), Grantmaking and Giving Services (8132), Other Individual and Family Services (624190)

SIC

Services-Misc Health & Allied Services, Nec (8090), Services-Health Services (8000)

akta.pro primary industry

Rare Disease & Special Needs Support Organizations (BPAGACAM)

akta.pro secondary industries

Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS) (BPAGACAA), Health & Medical Research Grantmaking Foundations (BPAGAKAL)

Keywords

• Rare disease advocacy
• Patient registry services
• Research grants funding
• Patient community support
• Genetic disorder foundation

Headquarters

HQ city

United States

HQ country

United States

HQ region

North America

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

Others, Personnel, Operations, Marketing or Sales, Technology or R&D

Revenue model

1. Individual Donations: Tax-deductible donations from individuals, families, and supporters, processed through Network for Good platform. The foundation runs two major annual campaigns: the 'Sunniest Day of Hope' in August (Awareness Month) and Giving Tuesday/end-of-year giving.
2. Research Grants Awarded: The foundation awards grants to researchers studying SKS, funded by donations and fundraising. Research grants have created mouse and fly models of SKS for treatment studies. The foundation is the only non-profit specifically funding SKS research.
3. Merchandise Sales: Sale of branded merchandise (t-shirts, hoodies, hats) through Bonfire, shipped internationally, to raise awareness and funds.
4. In-Kind Donations: The foundation accepts in-kind donations and donations of shares, contacted via [email protected].

Go-to-market motion2 records

Distribution channels7 records

Marketing channels10 records

Core offering

The Smith-Kingsmore Syndrome Foundation is a non-profit patient advocacy organization that accelerates research and connects a global community of families affected by Smith-Kingsmore syndrome, a rare mTOR gene mutation. It funds scientific research through grants, operates a global patient registry, publishes multilingual educational guides, hosts biennial international conferences and monthly virtual meetups, and runs awareness and fundraising campaigns.

Product overview

The Smith-Kingsmore Syndrome Foundation is a non-profit organization offering a portfolio of patient-centered products and services for the SKS community. Core offerings include the Global Patient Registry (powered by Sanford CoRDS) for data collection and research collaboration, multilingual Family & Medical Provider Guides available in 24+ languages, a Research Grants Program funding academic labs (Dr. Liu at UF, Dr. Chiu at UC Davis), biannual International Family & Research Conferences, monthly virtual Community Meetups in multiple languages, a regular Newsletter, and branded Merchandise for awareness. These interconnected services work together to accelerate research, provide educational resources, and build community connections for families affected by Smith-Kingsmore syndrome.

Differentiator

Problem solved

Functional benefit

Products and services

• Smith-Kingsmore Syndrome Global Patient Registry A confidential and secure global patient registry that collects comprehensive data about how Smith-Kingsmore syndrome impacts individuals, with de-identified data made available to researchers worldwide to advance scientific understanding and treatment research.
• Family & Medical Provider Guide A downloadable guide about Smith-Kingsmore syndrome available in 24 languages, designed to educate medical providers, teachers, therapists, and family members about the condition, diagnosis, and management.
• Research Grants Program A grant program funding academic research laboratories studying Smith-Kingsmore syndrome, including support for cell lines, mouse and fly models to study genetic variants and identify therapeutic strategies.
• International Family & Research Conference Biannual international conferences bringing together clinicians, researchers, and SKS families from around the world to share current research, treatments, and community networking opportunities.
• SKSF Community Meetups Virtual monthly community meetups in English, Spanish, and Portuguese providing opportunities for SKS families to share stories, advice, and peer support.
• Newsletter Regular email newsletter providing updates on SKS research, family stories, fundraising campaigns, event information, and foundation news to connected families and supporters.
• SKSF Merchandise Store Branded awareness merchandise including t-shirts, hoodies, and hats sold through the Bonfire marketplace with international shipping to raise awareness and funds for the foundation.

Quantifiable outcome

• 350 families connected in 49 countries since 2019
• +3 more outcomes

Named customers7 records

Segments4 records

Ideal customer profiles4 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Feature3 records

Partnerships

Ten partnerships are on record, tiered core and minor.

• Chan Zuckerberg Initiative (#RareAsOne Network)coreStrategic or Co-development Partner · 1 January 2020The Smith-Kingsmore Syndrome Foundation was accepted into the Chan Zuckerberg Initiative's #RareAsOne Network — a group of 50 patient-led organizations strengthening rare disease communities and improving the pace of research. This network provides the foundation with resources, peer learning, and visibility to accelerate SKS research.
• Sanford CoRDScoreStrategic or Co-development PartnerThe foundation partnered with Sanford CoRDS to establish the SKS Global Patient Registry — a confidential and secure platform collecting comprehensive data about individuals with SKS. De-identified registry data is accessible to researchers worldwide and is critical for advancing understanding of the syndrome.
• Bonfire (Merchandise Platform)minorChannel Partner/ Reseller/ DistributorThe foundation sells branded merchandise (t-shirts, hoodies, hats) through Bonfire, a platform that handles production and international shipping, generating awareness and revenue.
• Cincinnati Children's Hospital Medical Center (CCHMC)coreStrategic or Co-development PartnerCCHMC co-hosted the inaugural SKS Family & Research Conference in October 2019 and the second virtual conference in October 2021. CCHMC researchers and clinicians presented at these events, and the hospital conducts the SKS Natural History Study and Medical History Study.
• Lurie Children's Hospital, ChicagocoreStrategic or Co-development PartnerLurie Children's Hospital hosted the 3rd International SKS Family & Research Conference in April 2024, continuing the foundation's pattern of partnering with leading children's hospitals to convene the SKS research and family community.
• Dr. Andrew Liu, University of Florida College of MedicinecoreStrategic or Co-development PartnerThe foundation awarded its first research grant ($178,000 over 3 years) to Dr. Liu's lab to develop cell lines and mouse models for SKS variants. Dr. Liu and collaborators subsequently received a $2.4M NIH grant — the first major government investment in SKS research — building on the foundation's initial funding.
• Dr. Joanna Chiu, University of California DaviscoreStrategic or Co-development PartnerThe foundation's second research grant was awarded to Dr. Chiu's lab at UC Davis, which uses Drosophila (fruit fly) as an animal model to study different SKS genetic variants found in human patients, with the long-term goal of identifying new drugs and therapeutic strategies.
• UCLA Department of Human GeneticsminorStrategic or Co-development PartnerUCLA's Department of Human Genetics is conducting a Natural History Study of neurodevelopmental disorders including SKS, helping to understand how the syndrome develops over time. The foundation supports connecting families to this research opportunity.
• Seattle Children's Research Institute (SCRI)minorStrategic or Co-development PartnerDr. Mirzaa at SCRI is conducting brain research enrolling individuals with SKS who have had an MRI, with the goal of understanding the causes, mechanisms, and outcomes of SKS-related brain differences.
• National Brain Gene Registry (Washington University in St. Louis)minorStrategic or Co-development PartnerThe National Brain Gene Registry aims to better understand rare gene variants in intellectual and developmental disabilities. MTOR is listed as a gene of interest. The foundation facilitates patient participation in this registry.

Scale indicators6 records

Recent moves6 records

Expansion highlights5 records

Broad incumbents

• National Organization for Rare Disorders (NORD): NORD is the umbrella advocacy organization for all rare diseases in the US, providing resources, policy advocacy, and a research grant program. It is comparable to SKSF as a rare disease patient advocacy organization, though NORD operates at a much broader scale across 7,000+ conditions rather than focusing on a single syndrome.
• Global Genes: Global Genes is a rare disease patient advocacy organization that builds awareness, provides educational resources, and connects rare disease foundations. It is comparable to SKSF as a peer organization in the rare disease nonprofit ecosystem, particularly for its rarity-focused community-building and empowerment programs.
• EveryLife Foundation for Rare Diseases: EveryLife Foundation is a policy and advocacy organization focused on accelerating biotech innovation for rare diseases through federal policy and regulatory engagement. It is comparable to SKSF as a rare disease nonprofit operating in the same advocacy ecosystem, though EveryLife focuses on systemic policy rather than a single disease.

Direct peers

• International Rett Syndrome Foundation: International Rett Syndrome Foundation supports a rare neurodevelopmental disorder through research funding, a patient registry, family conferences, and global community building. It is directly comparable to SKSF in mission, population niche (rare neurodevelopmental disorder), and operational structure.
• Foundation for Prader-Willi Research: Foundation for Prader-Willi Research is a patient-led rare disease foundation that funds research, maintains a global patient registry, hosts family conferences, and operates a multilingual global community. It is directly comparable to SKSF in mission, structure, and operational model — a small disease-specific foundation supporting research on a rare neurodevelopmental disorder.
• CDKL5 Foundation: CDKL5 Foundation supports a rare genetic neurodevelopmental disorder through research grants, patient registry, family conferences, and multilingual resources. It is directly comparable to SKSF in operating model, condition profile (rare genetic neurodevelopmental), and small foundation size.
• Phelan-McDermid Syndrome Foundation: Phelan-McDermid Syndrome Foundation is a parent-led foundation supporting a rare neurodevelopmental genetic disorder, operating a patient registry, funding research grants, and hosting biennial family/research conferences. It is directly comparable to SKSF in disease niche, organizational structure, and programmatic approach.
• Cure SMA: Cure SMA is a patient advocacy foundation that funds research, supports families, and has successfully driven therapeutic development for spinal muscular atrophy. It is comparable to SKSF as a rare disease foundation that has evolved from seed funding into a major research catalyst, providing a model for what SKSF could scale into for Smith-Kingsmore syndrome.
• COMBINEDBrain: COMBINEDBrain is a consortium that brings together patient advocacy organizations for rare neurodevelopmental disorders to accelerate research and drug development. It is comparable to SKSF as a peer in the rare neurodevelopmental disorder space seeking to consolidate patient communities and research resources.

Others

• Simons Foundation (SFARI): Simons Foundation supports autism and neurodevelopmental disorder research through major grants and infrastructure. It is comparable as an adjacent funder in the rare neurodevelopmental disorder research space where SKSF operates, though Simons operates at vastly greater scale as a private foundation.

Market position

Strengths5 records

Weaknesses4 records

Competitive moat5 records

Key risks5 records

Key highlights6 records

Customer concentration

• YouTubeyoutube.com/@smith-kingsmoresyndromefou7050
• LinkedInlinkedin.com/company/smith-kingsmore-syndrome-foundation

Revenue estimate

Valuation estimate

Number of profiles

Profiles3 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about Smith-Kingsmore Syndrome Foundation