Mark Egly Foundation

Our Agenda

Bold Commitments to Transform Healthcare

The Mark Egly Foundation is committed to ambitious, achievable goals that will fundamentally change how medicine approaches Alpha-1 Antitrypsin Deficiency and related inflammatory conditions. Our agenda is clear, actionable, and driven by urgency—too many lives have been lost to delayed diagnosis and inadequate treatment.

  1. Leading Medical Education and Awareness

    We Will Be the Frontrunner in Educating the Medical Community

    The Challenge: Most physicians have limited knowledge of Alpha-1 Antitrypsin Deficiency and virtually no understanding of AAT's broader role in preventing multiple diseases.

    Our Commitment:

    Physician Education Programs

    • Develop comprehensive continuing medical education (CME) programs on AATD
    • Create specialty-specific training modules (pulmonology, hepatology, rheumatology, neurology, oncology)
    • Host annual conferences bringing together leading researchers and clinicians
    • Produce peer-reviewed publications in major medical journals
    • Distribute case studies demonstrating successful AAT interventions

    Medical School Curriculum Integration

    • Work with medical schools to include AATD in standard curricula
    • Develop teaching materials for medical students and residents
    • Sponsor grand rounds and lectures at academic medical centers
    • Create online learning modules accessible to students worldwide

    "Uniting Doctors" Initiative

    • Build a global network of physicians knowledgeable about AATD
    • Facilitate knowledge sharing through forums, webinars, and conferences
    • Create mentorship programs pairing experienced AATD clinicians with newcomers
    • Develop referral networks for complex cases

    Public Awareness Campaigns

    • Educate patients about AATD symptoms and the importance of testing
    • Reach at-risk populations through targeted outreach
    • Partner with patient advocacy organizations
    • Utilize social media, traditional media, and community events

    Our Vision: Every physician should be able to recognize AATD, order appropriate testing, and understand when AAT therapy could benefit their patients—not just for traditional AATD, but for the 152+ conditions now known to be affected.

    Measurable Goals:

    • Train 100,000+ physicians in AATD recognition and treatment by 2027
    • Establish AATD education programs in every medical school
    • Publish 50+ peer-reviewed articles on AAT applications
    • Reach 10 million+ people through public awareness campaigns

  2. Changing the Standard of Care

    We Will Be the Frontrunner in Transforming Medical Standards

    The Challenge: Current standards of care for AATD are outdated, too restrictive, and fail to recognize the systemic nature of this condition.

    Our Commitment:

    Advocacy for Updated Clinical Guidelines

    Screening Standards

    • Advocate for routine AATD screening in at-risk populations
    • Push for inclusion of AAT testing in standard respiratory and liver disease workups
    • Promote family cascade testing as standard practice
    • Support newborn screening consideration in every birth

    Treatment Criteria Expansion

    • Advocate for earlier initiation of augmentation therapy
    • Push for treatment based on systemic manifestations, not just lung function
    • Support use of AAT in autoimmune diseases and other inflammatory conditions
    • Promote preventive treatment for every carrier and at-risk individuals

    Diagnostic Criteria Broadening

    • Work with professional medical organizations to redefine AATD
    • Include functional deficiency and systemic manifestations in diagnostic criteria
    • Recognize moderate deficiency as clinically significant
    • Acknowledge environmental and acquired AAT depletion

    Policy and Regulatory Advocacy

    Insurance Coverage

    • Advocate for insurance coverage of expanded AAT testing
    • Fight for coverage of augmentation therapy for broader indications
    • Work to eliminate arbitrary treatment restrictions
    • Push for coverage of alternative AAT formulations and delivery methods

    FDA and Regulatory Engagement

    • Support clinical trials for new AAT indications to include inhalers by inhalers
    • Advocate for expedited approval pathways for AAT therapies
    • Work toward orphan drug designation for rare AATD variants
    • Support compassionate use programs

    Professional Organization Collaboration

    • Partner with American Thoracic Society, European Respiratory Society
    • Work with hepatology, rheumatology, and neurology professional societies
    • Collaborate with patient advocacy groups
    • Engage with international AATD organizations

    Our Vision: Transform the standard of care so that AATD is diagnosed early, treated comprehensively, and understood as a systemic condition requiring proactive management.

    Measurable Goals:

    • Achieve updated clinical guidelines from major medical societies by 2028
    • Secure expanded insurance coverage for AAT testing and treatment
    • Reduce average time to diagnosis from 8 years to <1 year by 2030
    • Establish AAT therapy as standard treatment for select autoimmune conditions

  3. Accelerating AAT Production Innovation

    We Will Be a Frontrunner in Alternative AAT Development

    The Challenge: Current AAT augmentation therapy relies entirely on human plasma donation—a limited, expensive resource that cannot meet growing demand as therapeutic applications expand.

    Our Commitment:

    Supporting Alternative Production Methods

    Plant-Based AAT Production

    • Fund research into rice, tobacco, and moss-based AAT production
    • Support development of plant-derived pharmaceutical-grade AAT
    • Advocate for regulatory pathways for plant-produced biologics
    • Partner with agricultural biotech companies

    Animal-Derived AAT (This method has been available for over 25 years)

    • Support transgenic animal programs (goats, sheep, cattle producing AAT in milk)
    • Fund studies on transgenic chicken eggs producing AAT
    • Ensure safety and efficacy testing for animal-derived products
    • Work toward regulatory approval

    Recombinant Technology

    • Support CHO cell, yeast, and bacterial expression systems
    • Fund scale-up and purification method development
    • Promote cell-free protein synthesis approaches
    • Support innovative bioreactor technologies

    Gene Therapy as Production Solution

    • Advocate for gene therapy enabling patients to produce their own AAT
    • Support AAV-based gene therapy clinical trials
    • Fund CRISPR research for in vivo correction of AAT mutations
    • Work toward affordable, one-time curative approaches

    Accelerating Regulatory Approval

    • Work with FDA and international regulators on approval pathways
    • Support comparative efficacy studies of alternative AAT sources
    • Advocate for reasonable safety standards that don't create unnecessary barriers
    • Promote international harmonization of regulatory requirements

    Our Vision: Make Alpha-1 Antitrypsin therapy affordable and accessible to everyone who needs it, regardless of geography or economic status, by diversifying production beyond human plasma.

    Measurable Goals:

    • Support development of at least 3 alternative AAT production platforms by 2030
    • Achieve regulatory approval for at least 1 non-plasma AAT source by 2032
    • Reduce AAT therapy cost by 50%+ through alternative production
    • Ensure global AAT supply can meet demand as indications expand

  4. Preventing Disease Before It Starts

    Revolutionary Focus on Prevention

    Our Commitment: Shift medicine's approach from reactive treatment to proactive prevention.

    Prevention Initiatives

    Early Identification Programs

    • Promote routine screening for at-risk populations
    • Support genetic counseling and family cascade testing
    • Develop risk assessment tools for clinicians
    • Create patient education materials on risk factors

    Preventive Treatment Protocols

    • Develop evidence-based protocols for treating at-risk individuals before disease onset
    • Study optimal timing and dosing for preventive AAT therapy
    • Create monitoring guidelines for pre-symptomatic patients
    • Establish prevention benchmarks and outcome measures

    Environmental Protection Education

    • Educate about AAT-depleting environmental exposures (smoke, pollution, toxins)
    • Promote workplace protections for at-risk individuals
    • Develop lifestyle modification guidelines
    • Create tools for tracking and minimizing exposures

    Comorbidity Prevention

    • Research AAT's role in preventing secondary diseases
    • Develop strategies for preventing complications in diagnosed patients
    • Create comprehensive care models addressing multiple systems
    • Track long-term outcomes of preventive approaches

  5. Expanding Research Horizons

    Discovering New Applications

    Our Commitment: Fund and promote research exploring AAT's potential across medicine.

    Priority Research Areas

    • The 152 autoimmune diseases identified by Mark Egly
    • Cancer prevention and metastasis inhibition
    • Neurological protection (Alzheimer's, ALS, MS)
    • Cardiovascular disease prevention
    • Tissue protection across all organ systems
    • Preventing inflammatory response for military, first responders, sports activities, all inflammatory injurys and events.

    Research Support

    • Provide grant funding for innovative research
    • Facilitate collaboration between researchers
    • Support publication and dissemination of findings
    • Advocate for increased NIH and government research funding

  6. Building a Global Community

    Uniting Stakeholders for Maximum Impact

    Our Commitment: Create a worldwide network of patients, families, physicians, researchers, and advocates.

    Community Building Initiatives

    Patient Support and Empowerment

    • Create patient education resources
    • Facilitate peer support networks
    • Provide genetic counseling access
    • Offer patient navigation services

    Physician Network ("Uniting Doctors")

    • Connect AATD-knowledgeable physicians globally
    • Facilitate case consultations and knowledge sharing
    • Create online forums and communities
    • Host collaborative learning events

    Research Collaboration

    • Build international research consortia
    • Share data through registries and databases
    • Coordinate multi-center clinical trials
    • Promote open science and data sharing

    Advocacy Partnerships

    • Partner with other patient advocacy organizations
    • Coordinate policy advocacy efforts
    • Amplify patient voices in healthcare policy
    • Build coalitions for systemic change

  7. Ensuring Equitable Access

    Healthcare Justice for All

    Our Commitment: Ensure that diagnosis, treatment, and prevention are accessible regardless of geography, income, or insurance status.

    Access Initiatives

    Testing Accessibility

    • Support free or low-cost testing programs
    • Promote at-home testing options
    • Advocate for insurance coverage of screening
    • Reduce barriers to genetic testing
    • Advocate for annual testing levels as a precursor of diseases

    Treatment Affordability

    • Advocate for fair pricing of AAT therapies
    • Support patient assistance programs
    • Work toward alternative production reducing costs
    • Fight insurance denials and restrictions

    Global Reach

    • Extend education and resources to underserved regions
    • Support international AATD organizations
    • Promote technology transfer for AAT production worldwide
    • Advocate for inclusion in global health initiatives

Our Timeline: Ambitious but Achievable

2025-2026: Foundation Building

  • Launch major education initiatives
  • Begin "Uniting Doctors" network expansion
  • Fund initial alternative production research
  • Publish Mark's research findings widely

2027-2028: Standards Transformation

  • Achieve updated clinical guidelines from major societies
  • Secure expanded insurance coverage
  • Launch prevention protocols and studies
  • Demonstrate alternative AAT production feasibility

2029-2030: Widespread Adoption

  • See dramatic increase in early diagnosis rates
  • Achieve regulatory approval for alternative AAT sources
  • Demonstrate prevention's effectiveness in multiple diseases
  • Establish AAT therapy as standard for autoimmune conditions

2031 and Beyond: A New Medical Paradigm

  • AATD routinely diagnosed before symptoms appear
  • AAT therapy accessible and affordable globally
  • Prevention standard practice for at-risk populations
  • 152+ autoimmune conditions treated with AAT
  • Millions of lives saved through early intervention

Our Promise

The Mark Egly Foundation will not rest until:

  • Every physician understands AATD and knows when to test
  • Every patient is diagnosed quickly and accurately
  • Every individual who needs AAT therapy can access it affordably
  • Every at-risk person receives preventive care before disease develops
  • Every discovery is shared openly with the medical community
  • Every life that can be saved through AAT therapy is saved

This Agenda Is Not Optional—It's Essential

Too many people have suffered and died from undiagnosed or inadequately treated AATD. Too many families have lost loved ones to preventable complications. Too many opportunities for prevention have been missed.

The time for incremental change has passed. Medicine must evolve—now.

The Mark Egly Foundation exists to drive this transformation. We will be the catalyst, the advocate, the educator, and the supporter of innovation that changes healthcare for millions.

Join Our Agenda

  • For Physicians: Commit to learning about AATD and testing more liberally
  • For Researchers: Pursue bold research exploring AAT's potential
  • For Industry: Develop alternative production methods and new therapies
  • For Patients: Share your story and advocate for change
  • For Policymakers: Support updated standards and equitable access
  • For Everyone: Help spread awareness that can save lives

This is our agenda. This is our commitment. This is Mark's legacy.

Together, we will change medicine and save lives.