activities · 24
what they do
direct service · 8
- Administer scholarship fund for conference access Medical Conference Access SupportOperates a scholarship fund to assist families with financial need in attending the CFC conference, improving access to critical community and medical resources.
- Engage volunteers in organizational operations Volunteer Mobilization & ManagementUtilizes volunteers to support conference logistics and perform administrative duties, contributing to the organization’s operational capacity.
- Engaging Volunteers Volunteer Mobilization & ManagementEngages volunteers to assist with various activities, including conference support and administrative duties.
- Inform the community about medical events Medical Conference Access SupportProvides information about upcoming medical conferences and rare disease events to keep the community informed.
- Provide community information on medical and rare disease events Medical Conference Access SupportShares information about upcoming medical conferences and rare disease events to keep the CFC-affected community informed and engaged.
- Providing Conference Support and Information Medical Conference Access SupportOffers a scholarship fund to help families with financial need attend the CFC conference and provides information about upcoming medical conferences and rare disease events to the community.
- Support attendance at CFC conferences Medical Conference Access SupportOperates a scholarship fund to help families with financial need attend the CFC conference and engages volunteers to support conference activities.
- Support family and community engagement through conferences and information sharing Medical Conference Access SupportProvides information about upcoming medical conferences and rare disease events, supports volunteers in conference and administrative activities, and operates a scholarship fund to assist financially needy families in attending the CFC conference.
research · 11
- Develop clinical management guidelines through expert consensus Rare Disease Research Funding and CoordinationFunded the first Consensus Meeting in San Francisco, CA, to bring together medical experts and develop standardized management guidelines for CFC syndrome.
- Develop syndrome management guidelines Patient Registry and Data MappingFunded a Consensus Meeting to develop syndrome management guidelines for CFC syndrome.
- Fund and advance clinical research on CFC syndrome Rare Disease Research Funding and CoordinationDirectly funds research initiatives on CFC syndrome, including a $30,000 grant to the University of Minnesota for the Seizure Natural History Study, a $30,000 grant to complete the final year of seizure research, over $70,000 raised for seizure research over two years, and the first official research grant focused on Growth Failure in CFC Syndrome.
- Fund and advance clinical research on CFC syndrome Rare Disease Research Funding and CoordinationDirectly funds research initiatives including a $30,000 grant to the University of Minnesota for the Seizure Natural History Study, a $30,000 grant to complete the final year of seizure research, its first official research grant on Growth Failure in CFC Syndrome, and has raised over $70,000 for seizure research over two years.
- Fund research on CFC syndrome Rare Disease Research Funding and CoordinationFunds research into various aspects of CFC syndrome, including growth failure and seizure natural history, having raised over $70,000 for seizure research and granted $60,000 to the University of Minnesota for seizure studies.
- Funding CFC Syndrome Research Rare Disease Research Funding and CoordinationFunds research into CFC syndrome, including grants for seizure research (totaling over $130,000 to the University of Minnesota), a study on Growth Failure, and a Consensus Meeting to develop syndrome management guidelines.
- Maintain a patient registry for CFC syndrome Patient Registry and Data MappingMaintains and expands a registry of individuals with CFC syndrome, including an interactive world map of affected families, in collaboration with Patient Crossroads (now Invitae).
- Maintain and expand global patient registry for CFC syndrome Patient Registry and Data MappingOperates a worldwide patient registry for CFC syndrome in collaboration with Patient Crossroads (now Invitae), continuously expanding participation through outreach and registration via the organization's 'connect with us' form.
- Maintaining a Patient Registry Patient Registry and Data MappingMaintains and expands a worldwide registry of individuals with Cardio-Facio-Cutaneous (CFC) syndrome in collaboration with Patient Crossroads (now Invitae), and uses this data to create an interactive world map showing general locations of affected families.
- Operate and expand global patient registry for CFC syndrome Patient Registry and Data MappingMaintains and expands a worldwide patient registry for CFC syndrome in collaboration with Patient Crossroads (now Invitae), serving as a foundational resource for research and clinical guideline development.
- Support development of clinical management guidelines Rare Disease Research Funding and CoordinationFunded the first Consensus Meeting in San Francisco, CA, to develop standardized syndrome management guidelines for CFC, advancing clinical care frameworks.
capacity building · 5
- Create and share tools for global community mapping and connection Patient Registry and Data MappingDeveloped an interactive world map showing general locations of families affected by CFC syndrome, based on data collected through the organization's 'connect with us' form, to foster community visibility and connection.
- Develop and share data visualization tools for community mapping Patient Registry and Data MappingCreated an interactive world map showing general locations of families affected by CFC syndrome, based on data from the organization's 'connect with us' form, to support community engagement and outreach.
- Developing Organizational Governance PoliciesAdopts governance policies based on standards from the New York State Council of Non-profits and provides guidelines to ensure uniformity and compliance in policy-related activities.
- Implement governance and policy compliance frameworksAdopts governance policies aligned with standards from the New York State Council of Non-profits and provides internal guidelines and action sequences to ensure uniformity and compliance in organizational policy activities.
- Implement standardized governance and compliance policiesAdopts governance policies aligned with standards from the New York State Council of Non-profits and provides internal guidelines to ensure uniformity and compliance in policy-related activities.
strategies · 25
how they think
Theories of action extracted from this org's own source material. Click any to see the full field of orgs running the same approach.
- Advance research and treatment development for CFC syndrome research_facilitationFosters medical research on CFC syndrome, including the development of treatments, by facilitating collaboration among researchers and promoting scientific inquiry within the RAS pathway.
- Advance research and treatment development for CFC syndrome research_facilitationFacilitates medical research to deepen scientific understanding of CFC syndrome and drive the development of targeted treatments, particularly through collaboration on RAS pathway-related conditions.
- Advancing Medical Knowledge and Care for CFC Syndrome medical_awareness_and_research_advancementThe organization works to ensure medical professionals have access to current clinical information for accurate diagnosis and symptom management, advocates for increased medical awareness, and promotes comprehensive care. This is achieved by fostering medical research, collaborating with other organizations on RAS pathway conditions, and leveraging an expert Medical Advisory Board to guide research and patient care.
- Advancing Medical Knowledge and Care for CFC Syndrome medical_awareness_and_research_advancementThe organization works to ensure medical professionals have access to current clinical information for accurate diagnosis and symptom management, advocates for increased medical awareness, and promotes comprehensive care. This includes fostering medical research and utilizing a Medical Advisory Board to guide research and patient care according to peer-reviewed guidelines.
- Build awareness and community engagement via education and events community_education_through_event_outreachUses event outreach and information dissemination to increase community knowledge, foster engagement, and advocate for improved recognition of CFC syndrome among medical and family networks.
- Community Education through Event Outreach community_education_through_event_outreachThe organization uses the dissemination of information about events and research as a method to engage and educate the CFC syndrome community, fostering participation and knowledge sharing.
- Community Mapping with Privacy Protections community_mapping_with_privacy_protectionsThe organization utilizes a privacy-protective, geographically aggregated mapping approach to visualize the global distribution of families affected by CFC syndrome who have self-registered, enabling a better understanding of the community's reach while safeguarding individual data.
- Empower families through direct support and care navigation family_support_navigationOffers family liaison services and targeted support to help newly diagnosed families understand and manage CFC syndrome, improving their ability to access care and cope with challenges.
- Empower families through early support and care navigation family_support_navigationOffers family liaison services and targeted outreach to newly diagnosed families, helping them navigate medical, emotional, and logistical challenges associated with CFC syndrome.
- Empowering and Supporting Families through Education and Information Sharing family_support_and_educationThe organization provides support to individuals and families affected by CFC syndrome through outreach, education, and sharing information, including acting as a clearinghouse for information and offering family liaison support to help newly diagnosed families navigate the condition. This approach aims to empower parents and families through knowledge and community connection.
- Enable global community visibility through privacy-protective mapping community_mapping_with_privacy_protectionsUses aggregated, privacy-protected geographic data from self-registered families to map the global distribution of CFC syndrome, supporting outreach, research, and community awareness without compromising individual privacy.
- Enhance clinical care through expert guidance and up-to-date information clinical_information_disseminationEnsures healthcare providers can deliver accurate diagnoses and effective symptom management by disseminating current clinical knowledge and leveraging a Medical Advisory Board to align care with peer-reviewed standards.
- Enhance clinical care through expert guidance and up-to-date information clinical_information_disseminationEnsures accurate diagnosis and optimal symptom management by providing physicians with current clinical knowledge and leveraging a Medical Advisory Board of volunteer experts to align care with peer-reviewed guidelines.
- Enhancing Diagnostic Precision for Genetic Syndromes diagnostic_precision_in_genetic_syndromesGiven the symptomatic overlap of CFC syndrome with other genetic conditions like Noonan and Costello Syndromes, the organization emphasizes the importance of accurate diagnosis to ensure appropriate care and support.
- Ensure accurate diagnosis through clinical differentiation diagnostic_precision_in_genetic_syndromesAddresses symptom overlap with related genetic syndromes like Noonan and Costello Syndromes by promoting diagnostic precision to ensure appropriate care pathways for CFC syndrome.
- Facilitating Collaboration in RAS Pathway Research ras_pathway_collaborationThe organization actively promotes collaboration among various organizations and researchers who are focused on conditions within the RAS pathway, recognizing the interconnectedness of these genetic disorders to advance understanding and potential treatments.
- Facilitating Community Engagement and Education through Event Outreach community_education_through_event_outreachThe organization uses the dissemination of event and research information as a method to engage and educate the CFC syndrome community, fostering connection and shared knowledge.
- Leveraging Volunteer Engagement for Operational Delivery volunteer_dependent_operationsThe organization relies on the active involvement of volunteers to deliver its programs and provide essential operational support, recognizing volunteers as a critical resource for achieving its mission.
- Map global community distribution with privacy safeguards community_mapping_with_privacy_protectionsVisualizes the global reach of CFC syndrome through self-registered, geographically aggregated data while protecting individual privacy to inform outreach and research planning.
- Operationalize mission through volunteer engagement and board-led governance volunteer-dependent_operationsRelies on volunteer contributions for program delivery and organizational operations, guided by board-led policies that reflect community values and mission-aligned resource use.
- Operationalize mission through volunteer engagement and board-led governance volunteer-dependent_operationsRelies on volunteer-driven operations and leadership from a Board of Directors and Executive Director to guide policy and strategy, ensuring alignment with legal, ethical, and community standards.
- Promote medical awareness and provider engagement medical_awareness_and_parent_empowermentAdvocates for greater recognition of CFC syndrome in the medical community and encourages comprehensive care by educating healthcare providers and empowering parents to advocate effectively.
- Support through education and information sharing support_through_educationProvides education, outreach, and centralized information to individuals, families, and medical professionals affected by CFC syndrome to improve understanding, diagnosis, and care. This approach empowers patients and caregivers with knowledge and connects them to critical resources.
- Support through education and information sharing support_through_educationProvides families and individuals affected by CFC syndrome with education, resources, and information to improve understanding and management of the condition, enhancing coping and care navigation.
- Visualizing Global Distribution of Affected Families with Privacy Protections community_mapping_with_privacy_protectionsThe organization utilizes a privacy-protective, geographically aggregated mapping approach to visualize the global distribution of families affected by CFC syndrome who have self-registered, enabling a better understanding of the community's reach while safeguarding personal information.
named programs · 7
what they call their work
Family Ambassador Program
Network of 51 parent volunteers providing peer support, outreach, and guidance to newly diagnosed families worldwide
Family Medical Conference
Bi-annual event bringing together families, medical experts, and researchers for education, networking, and clinical consultations; offered in hybrid format since 2022
Lillian’s Legacy Research Fund
Dedicated funding initiative supporting research into seizures, neurodevelopmental disorders, and other complications associated with CFC syndrome
New Family Orientation
Program launched in 2023 to help newly diagnosed families navigate resources, understand diagnosis, and access organizational support
Seizure Natural History Study
Funded research at the University of Minnesota to understand seizure prevalence and neurobehavioral outcomes in CFC syndrome, supported by the Lillian’s Legacy Research Fund
Virtual Support Sessions and Webinars
Online support groups and educational clinics hosted via Zoom in partnership with institutions like Cincinnati Children’s Hospital Rasopathy Clinic
Worldwide Patient Registry
Launched in 2016 with Invitae (formerly Patient Crossroads), this registry collects clinical data and DNA to support research and track the global CFC population
relationships · 54
who they work with
- American College of Medical Genetics and Genomics Partner — Pilar Magoulas serves on the Program Committee.
- Ann & Robert H. Lurie Children’s Hospital of Chicago Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, specifically a RASopathy Program and CFC Overview.
- Arnold and Smith Law PLLC Partner — Donor to the Kinley Klassic fund
- Boston Children’s Hospital Partner — Dr. Amy Roberts is the Director of the Cardiovascular Genetics Research Program at this hospital and serves on the Medical Advisory Board.
- Boston Children’s Hospital Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome.
- Bricktown Parking Inc. Partner — Donor to the Kinley Klassic fund
- Children’s Hospital of Wisconsin Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, specifically a Neurofibromatosis and RASopathy Center.
- Children’s National Medical Center Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, including The Gilbert Family Neurofibromatosis Institute and Noonan Spectrum Disorders Clinic.
- Cincinnati Children’s Hospital Medical Center Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, specifically a RASopathies Clinic.
- Costello Kids Partner — Collaborates on the UK Costello/CFC Conference agenda and family programming.
- Duke University Partner — Dr. Daniel Kenney-Jung is an Assistant Professor of Neurology at this university and serves on the Medical Advisory Board.
- Emory University School of Medicine Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome.
- Erasmus University Medical Center – Sophia Children’s Hospital Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, specifically a CFC and CS Clinic and an NF1 Clinic.
- Frito-Lay Inc. Partner — Donor to the Kinley Klassic fund
- Genetic Alliance Partner — Collaborated on biobanking efforts for CFC International.
- Global Genes Partner — Member of the Leadership Council of Global Genes.
- Graybeards, LTD Partner — Donor in honor of Nola Iacobelli
- HBC Champions Foundation Partner — Donor to the Kinley Klassic fund
- Harvard Medical School Partner — Dr. Amy Roberts is an Associate Professor of Pediatrics at this institution and serves on the Medical Advisory Board.
- Icahn School of Medicine at Mount Sinai Partner — Dr. Bruce D. Gelb is a professor at this institution and serves on the Medical Advisory Board.
- Independent Opportunities Inc. Partner — Donor to the Kinley Klassic fund
- Institute of Human Genetics, University Hospital Magdeburg and Mitteldeutsches Kompetenznetzwerk Seltene Erkrankungen (MKSE) Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, specifically a Centre for RASopathies.
- Manchester Centre for Genomic Medicine Partner — Dr. Emma Burkitt-Wright, a consultant clinical geneticist, is associated with this center and serves on the Medical Advisory Board.
- Manchester Centre for Genomic Medicine Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, specifically a Clinical Genetics Service and Regional Genetics Laboratory.
- Mayo Clinic Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, specifically a Neurofibromatosis and Related Disorders Clinic.
- Medical Genetic Center, UNIFESP Partner — Dr. Maria Ines Kavamura is a researcher and dermatologist at this center and serves on the Medical Advisory Board.
- Mighty Myles Superhero Network Partner — Donor at the $500 to $999 level
- Mindich Child Health and Development Institute Partner — Dr. Bruce D. Gelb is the Director of this institute and serves on the Medical Advisory Board.
- Mount Sinai Hospital Partner — Listed as a clinic providing services related to Cardio-Facio-Cutaneous syndrome, specifically a Cardiovascular Genetics Program.
- NYU Langone Medical Center Partner — Dr. Joseph Levy is a Professor of Pediatrics and attending gastroenterologist at this medical center and serves on the Medical Advisory Board.
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