Our Mission

Changing Standards of Care in Medicine

Bringing Groundbreaking Alpha-1 Antitrypsin Research to the Front Lines of Healthcare

Our Foundation's Mission

The Mark Egly Foundation is dedicated to global education about Alpha-1 Antitrypsin Deficiency (AATD) and its far-reaching impact on human health. Mark's discovery of his own AATD diagnosis revealed a critical truth: this condition affects far more than previously understood, connecting to numerous diseases and health conditions that the medical community had never associated with Alpha-1 Antitrypsin.

We are leading the charge to ensure individuals receive appropriate treatment much earlier in life—before the onset of the hundreds of health conditions now known to be associated with AATD. The Mark Egly Foundation (MEF) is actively educating medical professionals across virtually every specialty, as well as the general public, about groundbreaking discoveries that link Alpha-1 Antitrypsin to medical conditions previously thought to be unrelated.

Beyond Liver and Lungs: A Paradigm Shift

For decades, the medical community has viewed Alpha-1 Antitrypsin Deficiency as primarily affecting the liver and lungs. Our mission challenges this limited understanding.

AATD is a deficiency of a single, critical protein. This deficiency—and sometimes improper protein folding—can cause conditions ranging from mild to severe. The root cause stems from varying alleles of the SERPINA1 gene. Through Mark's extensive research and discoveries, we now know that prevention and treatment options extend far beyond liver and lung disease, potentially addressing a significant number of previously unrelated health conditions.

Why This Mission Matters

A Personal Quest Born from Family Tragedy

For 45 years, Mark Egly has been driven by a singular question: Why did so many of his family members die far too young from devastating diseases? Breast cancer, lung cancer, prostate cancer, ovarian cancer, stomach cancer—these and many more claimed the lives of aunts, uncles, grandparents, great-grandparents, cousins, and even infants, cutting short their potential before they could truly live.

Respiratory issues were a recurring theme throughout his family history. In 2018, after suffering from breathing problems for decades, Mark was diagnosed with COPD and emphysema. For a well-conditioned professional athlete and lifetime non-smoker, this diagnosis defied logic.

A Breakthrough Discovery

Within just five days of intensive research following his diagnosis, Mark identified a probable cause. He requested testing for a rare condition that, at the time, had been identified in only approximately 8,000 people worldwide: Alpha-1 Antitrypsin Deficiency.

His diagnosis was confirmed, unlocking the answer to generations of family suffering.

Mark's relentless research uncovered the common thread connecting his family's tragic health history. His discoveries led to a U.S. Patent filing in 2020: METHOD OF PREVENTING AND/OR TREATING A PLURALITY OF DISEASES. The innovations detailed in this patent have the potential to help families worldwide achieve better health outcomes and avoid the devastation of cancer and numerous other diseases.

Our Commitment

Through the Mark Egly Foundation, we make these unwavering commitments to the global community:

1. Transforming Medical Education and Practice

   Our Commitment: We will educate physicians across 30+ medical specialties by 2027, ensuring healthcare providers understand the systemic nature of AATD and can identify it early—before irreversible damage occurs.

   What This Means:
   • Comprehensive training programs for primary care physicians, pulmonologists, hepatologists, rheumatologists, neurologists, oncologists, cardiologists, gastroenterologists, and specialists across every medical discipline
   • Development of clinical guidelines for AATD screening in high-risk populations
   • Creation of diagnostic decision trees that integrate AATD testing into standard workups for autoimmune conditions, unexplained inflammation, and chronic diseases
   • Establishment of an international network of AATD-aware physicians through our "Uniting Doctors" initiative

2. Empowering Patients and Families

   Our Commitment: We will ensure that every person affected by AATD—and those who may be—has access to clear, actionable information about this condition and its implications for their health.

   What This Means:
   • Free educational resources in multiple languages explaining AATD, its symptoms, and testing options
   • Patient advocacy programs connecting diagnosed individuals with expert medical care
   • Family screening programs to identify at-risk relatives before symptoms develop
   • Support networks connecting patients, caregivers, and families worldwide
   • Accessible guidance on navigating insurance coverage for testing and treatment

3. Revolutionizing the Standard of Care

   Our Commitment: We will work tirelessly to change medical practice standards so that AATD screening becomes routine for individuals with unexplained chronic conditions, autoimmune diseases, or family histories of early-onset illness.

   What This Means:

   • Advocacy with medical societies and professional organizations to update clinical guidelines
   • Collaboration with insurance providers to expand coverage for AATD testing
   • Development of risk assessment tools that identify candidates for AATD screening
   • Publication of clinical evidence demonstrating the cost-effectiveness of early detection
   • Partnership with healthcare systems to implement universal screening protocols

4. Advancing Critical Research

   Our Commitment: We will fund and facilitate research that explores the connections between Alpha-1 Antitrypsin and the 152 autoimmune diseases, multiple cancers, and numerous other conditions identified in Mark's patent filing.

   What This Means:

   • Targeted research grants investigating AAT's role in cancer prevention and metastasis
   • Studies examining AAT's protective effects in neurological conditions (Alzheimer's, ALS, Parkinson's, MS)
   • Clinical trials exploring novel therapeutic applications of AAT augmentation therapy
   • Tissue mapping studies identifying AAT activity across all major organ systems
   • Investigation of alternative AAT production methods (gene therapy, plant-based production, transgenic animals)
   • Research into optimal dosing, delivery methods, and treatment protocols for expanded indications

5. Preventing Disease Before It Starts

   Our Commitment: We will shift the paradigm from reactive treatment to proactive prevention, helping individuals avoid the devastating diseases that have claimed too many lives.

   What This Means:

   • Early intervention protocols for diagnosed individuals, starting treatment before organ damage occurs
   • Preventive strategies targeting high-risk populations identified through genetic screening
   • Lifestyle and medical interventions that optimize AAT function and reduce inflammation
   • Development of biomarkers that predict disease risk and treatment response
   • Creation of personalized prevention plans based on individual AATD genotypes and risk profiles

6. Making Treatment Accessible and Affordable

   Our Commitment: We will work to ensure that AAT augmentation therapy and related treatments are accessible to everyone who needs them, regardless of geographic location or economic circumstances.

   What This Means:

   • Advocacy for expanded treatment indications beyond current liver and lung criteria
   • Support for alternative AAT production methods that could dramatically reduce costs
   • Partnership with pharmaceutical companies to expand compassionate use programs
   • Collaboration with international health organizations to bring treatment to underserved regions
   • Development of treatment guidelines that reflect the systemic nature of AATD

7. Building a Global Movement

   Our Commitment: We will create a worldwide community of patients, physicians, researchers, and advocates united in the mission to end preventable suffering from AATD.

   What This Means:

   • An international network of Clinical Resource Centers providing expert AATD care
   • Regular conferences, symposia, and educational events bringing together the AATD community
   • Online platforms connecting stakeholders and facilitating knowledge sharing
   • Collaborative research initiatives spanning multiple countries and institutions
   • Public awareness campaigns reaching millions of people worldwide

The Promise in Action

These commitments are not aspirations—they are active initiatives already underway. Through our "Uniting Doctors" network, we have already engaged over 100 physicians across 20+ specialties in 15+ countries. We are funding research, developing educational materials, and working directly with medical societies to update standards of care.

Every day, we move closer to a world where:

• AATD is diagnosed early, before irreversible damage occurs
• Treatment is available to all who need it, not just those with severe liver or lung disease
• Families are screened proactively, preventing the tragedies that Mark's family endured
• The medical community recognizes AATD as the systemic condition it truly is
• Millions of lives are saved through prevention rather than late-stage intervention

Our Accountability to You

We measure our success not in research papers published or conferences attended, but in lives saved and suffering prevented. We commit to:

• Transparency: Regular reporting on our progress toward measurable goals
• Evidence-Based Action: All initiatives grounded in rigorous science and clinical data
• Patient-Centered Focus: Every decision guided by what serves patients and families best
• Collaborative Spirit: Working with all stakeholders—never territorial, always inclusive
• Unwavering Persistence: Mark searched for answers for 45 years. We will never stop until AATD-preventable deaths become a thing of the past

Join Our Mission

For Patients and Families

If you have AATD or suspect you might, we are here to help. Contact us for information about testing, treatment options, and connecting with expert physicians.

For Healthcare Providers

Join our "Uniting Doctors" network to stay informed about the latest AATD research and clinical guidelines. Together, we can transform patient outcomes.

For Researchers

Collaborate with us on groundbreaking studies that could change millions of lives. We facilitate partnerships, provide resources, and help secure funding.

For Donors and Supporters

Your investment in our mission accelerates our timeline and expands our reach. Every contribution brings us closer to a world where no family suffers preventable loss.

This is our promise. This is our commitment. This is why the Mark Egly Foundation exists.

Together, we can transform the landscape of preventive medicine and save countless lives through early detection, proper treatment, and continued research into Alpha-1 Antitrypsin Deficiency.

The time to act is now. The lives we save could include your own.

Contact us today to learn how you can be part of this life-saving mission.