The MED13L Foundation

What The MED13L Foundation does

The MED13L Foundation is a 501(c)(3) nonprofit patient advocacy organization founded in 2016 to serve families affected by MED13L syndrome, an ultra-rare neurodevelopmental disorder first described in 2013 with approximately 100 cases reported in the medical literature. Headquartered in Park Ridge, Illinois, the foundation operates with a small core staff of five (including a Chief Scientific Officer, Genetic Counselor, Research Coordinator, and Strategic Communications Manager) supplemented by a network of regional ambassadors across the US, Canada, Europe, and Latin America, with the website localized into seven languages.

The foundation's core product surface is a multi-platform research data infrastructure for MED13L. It operates a HIPAA-compliant Community Census and genetic report submission portal, integrates with RARE-X, Citizen Health, Simons Searchlight, and the Brain Gene Registry for natural history and longitudinal data collection, and maintains a biospecimen biorepository through COMBINEDBrain. Direct research initiatives include the three-year MIND Study with Boston Children's Hospital's Rosamund Stone Zander Translational Neuroscience Center and a funded UCSF CRISPRa preclinical study for MED13L Haploinsufficiency. Supporting programs include a Knowledge Base, Symptom Checker (powered by Probably Genetic), global community network map, and ICD-10 code resources (Q87.85).

The business model is philanthropic: all services are provided free to affected families. Revenue is generated through direct charitable donations, merchandise sales on the Bonfire.com storefront, and percentage-of-sale fundraising events with restaurant and brand partners (Double Good, Chipotle, Red Robin, Panera, Portillo's, Minted). Go-to-market is community-led: the foundation builds and curates a global family community through Slack, Facebook, ambassador networks, and awareness campaigns, then channels that community into registries and research participation to accelerate therapeutic development for the disorder.

Name

The MED13L Foundation

Legal name

The MED13L Foundation

Website

https://med13l.org

Company type

Private

Founded year

2016

Operating status

Operating

Headcount range

1–10 employees

Short description

The MED13L Foundation is a 501(c)(3) patient advocacy nonprofit that supports families affected by MED13L syndrome through global community building, multi-platform patient registries, natural history and biorepository research, and direct funding of preclinical therapeutic studies.

Ownership category

akta.pro rank

Product category

Rare Disease Patient Advocacy

NAICS

Voluntary Health Organizations (813212), Individual and Family Services (6241), Other Individual and Family Services (624190)

SIC

Services-Social Services (8300), 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

Patient Advocacy, Navigation & Access to Care (BPAGACAH), Disease-Specific Research & Support (e.g., Cancer, Diabetes, ALS) (BPAGACAA)

Keywords

• Rare disease advocacy
• Patient community support
• Natural history research
• Genetic disorder registry
• Biomedical research funding

Headquarters

HQ city

Park Ridge

HQ country

United States

HQ region

North America

Offices1 record

Markets served

GTM type

B2C

Offering type

Services

Cost components

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

Revenue model

1. Charitable Donations: The foundation raises funds through direct donations on their website. Donations go directly to community engagement and research initiatives. They also accept mailed donations.
2. Merchandise Sales: Official merchandise store selling apparel (t-shirts, sweatshirts), mugs, and bags with MED13L branding through Bonfire.com platform. A portion of proceeds from some merchandise lines supports the foundation.
3. Third-Party Fundraising Events: Partnership fundraising events with Double Good Popcorn, Chipotle, Red Robin, Panera Bread, Portillo's, and Minted where a percentage of sales are donated back to the foundation.

Pricing tiers

Go-to-market motion1 record

Distribution channels3 records

Marketing channels5 records

Core offering

The MED13L Foundation is a nonprofit patient advocacy organization that operates a suite of free programs for families affected by MED13L syndrome, including a HIPAA-compliant Community Census patient registry, multi-platform natural history studies (RARE-X, Citizen Health, Simons Searchlight), the MIND Study with Boston Children's Hospital, a biospecimen biorepository with COMBINEDBrain, and a multilingual Knowledge Base. The foundation funds research initiatives such as the UCSF CRISPRa study and connects diagnosed families globally through a Community Network Map, regional ambassadors, and peer support channels.

Product overview

The MED13L Foundation is a nonprofit organization focused on supporting families affected by MED13L syndrome through research advancement, family support, and awareness. The foundation operates primarily as a research-enabling organization with a suite of interconnected programs including: a Patient Registry and Community Census for collecting genetic reports and family data; multiple research registry platforms (RARE-X, Citizen Health, Simons Searchlight) for natural history studies; a Symptom Checker tool for genetic testing access; a Knowledge Base providing educational resources; a Community Network Map connecting families globally; and the MIND Study natural history initiative with Boston Children's Hospital. The foundation also supports biospecimen collection through the Combined Brain Road Show Biorepository and operates a merchandise store for awareness and fundraising.

Differentiator

Problem solved

Functional benefit

Products and services

• Community Census
• Research Registries (RARE-X, Citizen Health, Simons Searchlight)

Named customers1 record

Segments2 records

Ideal customer profiles2 records

Technology focussed No

API detail

Has API

No

API docs

API detail

Core technology

AI maturity

App detail

Integration10 records

Feature3 records

Partnerships

13 partnerships are on record, tiered core and major.

• Boston Children's HospitalcoreStrategic or Co-development PartnerPartnership with Boston Children's Hospital's Rosamund Stone Zander Translational Neuroscience Center to launch the MIND Study (MED13L Syndrome Investigation of Natural History and Development) - a groundbreaking three-year research initiative collecting clinical and developmental data from children with confirmed MED13L diagnosis.
• UCSFcoreStrategic or Co-development PartnerMED13L Foundation funds UCSF CRISPRa study for MED13L Haploinsufficiency research.
• RARE-XcoreStrategic or Co-development PartnerCaregiver-entered long-term natural history research study. Platform allows families to enter surveys, own their data, and contribute to research. Data is de-identified and protected. Surveys available in English, French, Spanish, and Portuguese.
• Simons SearchlightcoreStrategic or Co-development PartnerLong-term natural history research study and caregiver/patient-entered data collection. Simons Searchlight has collected specific information from the MED13L community, with surveys focused on behavioral, developmental, seizures, communication and neurological contributors. Data and iPSC samples available to researchers via SFARI base.
• Citizen HealthcoreTechnology or IntegrationSecure digital platform for medical record collection and organization. Works in collaboration with RARE-X and Simons Searchlight. Families can upload medical records in any language. Fully compliant with HIPAA and GDPR. Participants own and can download their data.
• COMBINEDBraincoreStrategic or Co-development PartnerPartnership for MED13L Biorepository - centralized collection of biological samples (saliva, blood, urine) that researchers can access to study underlying biology and develop future treatments. Also includes Combined Brain Road Show bringing biospecimen collection directly to rare disease family meetings.
• Brain Gene RegistrycoreStrategic or Co-development PartnerNIH grant-funded research study led by Washington University - St Louis, Boston Children's/Harvard, and University of North Carolina. Focuses on gathering information for variants of unknown significance (VUS). One-time caregiver/patient-entered data collection study.
• Probably GeneticcoreStrategic or Co-development PartnerPartnership to enhance genetic testing access and advance research in the MED13L community. Provides symptom checker tool for potential patients and caregivers.
• CHOP (Children's Hospital of Philadelphia)majorStrategic or Co-development PartnerHospital and research center partner listed in foundation's partner ecosystem.
• Columbia UniversitymajorStrategic or Co-development PartnerAcademic partner with Dr. Wendy Chung serving as Clinical and Molecular Geneticist, Kennedy Family Professor Of Pediatrics In Medicine, and Director Of Clinical Genetics at Columbia University on the Scientific Advisory Board.
• Global GenesmajorStrategic or Co-development PartnerRare disease advocacy organization partner listed in foundation's partner ecosystem.
• CPRN (Comprehensive Phenotype Resource Network)coreStrategic or Co-development PartnerRare disease partner organization listed in foundation's partner ecosystem.
• REN (Rare Epilepsy Network)coreStrategic or Co-development PartnerRare disease partner organization listed in foundation's partner ecosystem.

Scale indicators4 records

Recent moves6 records

Expansion highlights5 records

Direct peers

• RARE-X: RARE-X is a patient-led rare disease data platform that powers the MED13L Foundation's natural history registry. Directly comparable as a nonprofit data infrastructure provider for ultra-rare disease communities, with the same HIPAA-compliant caregiver-entered data model.
• Simons Searchlight: Simons Searchlight runs international rare disease registries very similar to MED13L's—collecting caregiver-reported data on developmental, behavioral, and neurological traits across multiple genetic conditions. Both serve as research-acceleration platforms for rare neurodevelopmental syndromes.
• Citizen Health: Citizen Health is a digital platform for medical record collection used by MED13L families. Comparable as a patient-controlled rare disease data infrastructure provider serving multiple disease communities with the same HIPAA/GDPR-compliant model.
• COMBINEDBrain: COMBINEDBrain is a nonprofit consortium that operates biorepositories and biospecimen road shows for ultra-rare neurological diseases—exactly mirroring the MED13L Foundation's biospecimen program. Both serve the same patient population overlap and share the same research-enabling mission.

Broad incumbents

• National Organization for Rare Disorders (NORD): NORD is the largest US rare disease umbrella organization providing advocacy, research funding, and patient support across 1,000+ diseases. MED13L Foundation operates as a disease-specific peer within NORD's ecosystem and is comparable as a rare disease advocacy nonprofit model.
• Global Genes: Global Genes is a leading rare disease advocacy nonprofit that provides toolkits, education, and community-building resources for disease-specific foundations. The MED13L Foundation lists Global Genes as a partner and operates with a comparable patient-advocacy mission.
• EveryLife Foundation for Rare Diseases: EveryLife Foundation is a US rare disease advocacy nonprofit focused on policy, FDA engagement, and newborn screening. Comparable as a disease-agnostic rare disease advocacy organization but operating at national policy scale versus MED13L's disease-specific model.

Emerging players

• Phelan-McDermid Syndrome Foundation: PMSF is a disease-specific patient advocacy foundation for a rare neurodevelopmental syndrome (SHANK3). Operates with the same playbook: family support, research registry, natural history studies, and academic partnerships—making it a structurally analogous peer to MED13L Foundation.
• SynGAP Research Fund: SynGAP Research Fund is a parent-led rare disease foundation for SYNGAP1 syndrome, another ultra-rare neurodevelopmental disorder. Operates with a near-identical model: small staff, family community building, disease-specific research funding, and active patient registry.
• Cure SMA (now Cure Spinal Muscular Atrophy): Cure SMA is a patient-led rare disease nonprofit that funds research, maintains registries, and supports drug development for spinal muscular atrophy. Highly comparable operating model to MED13L Foundation—small staff, disease-specific, registry-driven research funding—though at a much more mature stage with FDA-approved therapies.

Market position

Strengths5 records

Weaknesses5 records

Competitive moat5 records

Key highlights7 records

Customer concentration

• Xx.com/Med13L_Fdn
• YouTubeyoutube.com/@med13lfoundation?app=desktop
• Facebookfacebook.com/med13lfoundation
• LinkedInlinkedin.com/company/the-med13l-foundation
• Instagraminstagram.com/med13lfoundation

Compliance2 records

Revenue estimate

Valuation estimate

Number of profiles

Profiles21 records

Funding overview

Funding rounds

Investors

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M&A

Investments

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Frequently asked questions about The MED13L Foundation