named programs · 3 · from sources
What they call their work
Medical Advisory Board
Hosts a medical and scientific advisory board composed of leading orthopedic surgeons and researchers to guide research priorities.
Patient Education Resources
Produces and distributes educational materials such as the Connection Corner Guide Book and pain tracking tools for MHE patients and families.
Research Publications Dissemination
Curates and shares peer-reviewed scientific publications on MHE pathogenesis, clinical complications, and treatment approaches.
activities · 6 groups
What they do
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Rare Genetic Disease Research and Advocacy 2 activities
- Conducting and supporting biomedical research on MHEConducts and supports scientific research to advance understanding of MHE, including studies on gene mutations (EXT1/EXT2), exostosis formation, and systemic impacts of MHE on skeletal and nervous systems. Maintains a list of MHE-related research publications and publishes clinical overviews authored by its medical and scientific advisory board.
- Distributing research tools to advance MHE studiesDistributes conditional EXT1 knockout mouse models and double heterozygous Ext1+/-/Ext2+/- mouse models to over 20 laboratories globally to support preclinical research on MHE.
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Healthcare Provider Directories and Clinical Support Services 1 activity
- Facilitating access to medical expertiseHelps individuals locate doctors specializing in MHE and provides post-appointment support for MHE care.
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Genetic and Neurological Disease Research Funding 1 activity
- Funding MHE researchOversees grant announcements, review, and expenditure of foundation funds to support research on Multiple Hereditary Exostoses (MHE). Directs all funds raised through events like the Golf Outing to research initiatives.
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Charity Event Organization 1 activity
- Operating awareness and community engagement campaignsRuns the "Faces of MHE" campaign to collect and display photos from individuals affected by MHE. Organizes fundraising events such as the Funtasia 2023 Research Banquet featuring dinner, dancing, raffles, and personal storytelling.
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Medical Professional Education & Training 1 activity
- Organizing scientific conferences and webinars on MHECo-chaired the first scientific conference sponsored by the foundation and provides guidance on organizing MHE conferences. Hosts a Zoom conference series and educational webinars featuring medical and scientific professionals, including sessions on orthopedic management, with recordings made available.
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Familial Support for Rare Genetic Conditions 1 activity
- Providing patient and family support resourcesOffers a range of direct support services including an educational guidebook, pain and exostoses tracking tool, school needs checklist, and resources for navigating school accommodations. Provides a video library and information on preimplantation genetic diagnosis (PGD) for MHE.
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financials · form 990 · fy2023
revenue
Total revenue$242K
Contributions & grants$197K82%
Program service revenue$00%
Investment income$9K4%
Other revenue$36K
expenses
Total expenses$103K
Program expenses99%
Admin / overhead1%
Fundraising0%
Salaries & benefits$0
Grants paid out$100K
Largest expense lineFacilities
balance sheet
Total assets$593K
Cash$593K
Investments$0
Liabilities$36K
Net assets$557K
Liquid reserves69.3 mo
5 years on record · 2019–2023 · YoY revenue +13.7%
relationships · 50
Who they work with
- ASMB Partner — Partner organization with shared professional links
- AmazonSmile Partner — Partnered with AmazonSmile to enable donors to support the foundation through eligible purchases.
- American Academy of Orthopaedic Surgeons Partner — Provides referral access through its physician directory for orthopaedic care.
- American Physical Therapy Association Partner — Provides referral access through its Find a PT tool for physical therapy services.
- CHOP Partner — Hosts Dr. Maurizio Pacifici, Director of Research in the Department of Orthopedic Surgery, who conducts MHE research with The MHE Research Foundation.
- CTOS Partner — Partner organization providing patient advocacy resources
- David Feldman Partner — Founding member of the medical and scientific advisory board and co-author of key clinical publications on MHE.
- Dror Paley Partner — Founding member of the medical and scientific advisory board and co-author of foundational MHE clinical publications supported by the foundation.
- Duke University Medical Center Partner — Advisory board member affiliated with Duke University Medical Center contributes expertise to the foundation.
- Duke University School of Medicine Partner — Advisory board member from Duke University School of Medicine contributes orthopedic and cellular research expertise.
- Florida Atlantic University Partner — Advisory board member from FAU contributes surgical and clinical expertise.
- Glycobiology Society Partner — Partner organization with shared scientific interest in glycobiology and related diseases
- Goodshop Partner — Partnered with Goodshop to allow supporters to raise funds for the foundation through shopping at participating retailers.
- Harvard Medical School Partner — Advisory board member affiliated with Harvard Medical School contributes medical expertise.
- Limb Lengthening and Reconstruction Society Partner — Provides referral access through its member directory for limb lengthening and reconstruction specialists.
- MSTS Partner — Partner organization providing patient resources
- Massachusetts General Hospital Partner — Advisory board member from Massachusetts General Hospital contributes expertise in endocrinology and medicine.
- Musculoskeletal Tumor Society Partner — Provides referral access through its Orthopaedic Oncologist directory.
- NBHA Partner — Partner organization listed in membership network
- New York University Partner — Advisory board member affiliated with NYU contributes clinical expertise in pediatrics and orthopedic surgery.
- POSNA Partner — Partner organization providing useful links and professional resources in pediatric orthopaedics
- Paley Institute Partner — Collaborates on clinical research and treatment advancements for MHE, including hip reconstruction and orthopedic care.
- Paley Institute Partner — Collaborates with the Paley Institute for orthopaedic surgeon referrals and family support.
- Paley Institute Partner — Collaborates with the Paley Institute to provide specialized treatment and surgical care for individuals with MHE.
- Paley Institute Partner — Multiple advisory board members are affiliated with the Paley Institute, collaborating on MHE clinical care and research.
- Paley Orthopedic & Spine Institute Partner — Host organization of Dr. Claire Shannon, featured speaker in the MHE Research Foundation's webinar series.
- Pediatric Orthopaedic Society of North America Partner — Provides referral access through its Find-A-Doctor directory for pediatric orthopaedic specialists.
- Rizzoli Orthopaedic Institute Partner — Advisory board member from Rizzoli Orthopaedic Institute contributes genetics expertise in rare orthopedic diseases.
- Rizzoli Orthopaedic Institute, Genetics Unit Partner — Liaison role for research coordination and information sharing.
- SBP Medical Discovery Institute Partner — Hosts Dr. Yu Yamaguchi's laboratory, which conducts MHE research in collaboration with The MHE Research Foundation.
+ 20 more
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.
- Expert-Guided Research Prioritizationmethodology: collaborative-expertise-modelBy leveraging a Scientific and Medical Advisory Board composed of globally recognized experts who collaborate across institutions, we accelerate high-impact research because collective, interdisciplinary expertise ensures scientific rigor and clinical relevance.
- Patient-Centered Knowledge Disseminationmethodology: expert-patient_education_seriesBy connecting patients and caregivers directly with medical experts through webinars and personal storytelling, we improve understanding and management of MHE because lived experience combined with expert insight increases engagement and health literacy.
- Research-Driven Pathogenesis Understandingmethodology: heparan-sulfate-synthesis-pathwayBy studying the molecular and cellular mechanisms of EXT1/EXT2 gene function and heparan sulfate synthesis, we advance understanding of MHE pathology because disruptions in these pathways underlie tumor formation and skeletal abnormalities in patients.