The Mark Egly Foundation is spearheading groundbreaking research initiatives that challenge conventional medical thinking and open new horizons for disease prevention and treatment. Our work is built on Mark Egly's revolutionary discoveries about Alpha-1 Antitrypsin's far-reaching protective role throughout the human body.
The Central Question: Who needs Alpha-1 Antitrypsin therapy beyond those with severe genetic deficiency?
Current Medical Understanding: AAT augmentation therapy is reserved for individuals with severe genetic AATD (typically ZZ genotype) who meet strict lung function criteria.
Our Revolutionary Approach: We're demonstrating that millions of people who don't meet traditional AATD criteria could benefit from AAT therapy as a medication or supplement to prevent disease and improve health.
1. Moderate Deficiency (MZ, SZ, and Other Variants)
2. Normal Genetics with High Inflammatory Burden
3. Environmental AAT Depletion
4. Acquired AAT Deficiency
5. Preventive Use in High-Risk Populations
Foundation: Mark Egly's 2020 patent filing identifying excess neutrophil elastase as a major factor in 152 autoimmune diseases.
Research Goals:
Expected Impact: Transform treatment for millions with autoimmune diseases, offering a mechanism-based therapy that addresses root cause rather than just suppressing symptoms.
Key Hypothesis: Chronic inflammation and excess neutrophil elastase contribute to cancer initiation, progression, and metastasis. AAT supplementation may prevent and slow cancer development.
Research Priorities:
Initiative Activities:
Foundation: Emerging evidence that Alzheimer's and other neurodegenerative diseases have inflammatory and autoimmune components.
Research Focus Areas:
Collaborative Efforts:
The Challenge: If AAT deficiency damages lungs, what other tissues are vulnerable?
Research Approach:
Bone Marrow and Hematopoiesis
Cardiovascular System
Renal System
Musculoskeletal System
Gastrointestinal Tract
Reproductive System
Endocrine System
Methodology:
Goal: Create the first comprehensive atlas of AAT's protective role throughout the human body.
Current Problem: AATD diagnosis takes an average of 8 years and 4 healthcare providers.
Research Goals:
Critical Need: Current plasma-derived AAT cannot meet demand as indications expand.
Research Investment Areas:
Expected Outcomes:
Research Question: How can AAT therapy be optimized through combination with other treatments?
Investigation Areas:
1. Patient Registries and Natural History Studies
2. Health Economics Research
3. Implementation Science
4. Quality of Life Research
5. Genetic Epidemiology
Academic Partnerships
Industry Partnerships
Clinical Networks
Patient Engagement
Individual Donors
Corporate Partners
Foundations and Government
Researchers
Through these key research initiatives, the Mark Egly Foundation will:
Mark Egly spent decades searching for answers. His discoveries revealed that a single protein—Alpha-1 Antitrypsin—plays a far more crucial role in human health than medicine ever imagined.
Now, through rigorous research and clinical innovation, we're proving that these discoveries can:
The research is happening. The evidence is mounting. The future is prevention.
For research partnership inquiries, grant applications, or to support specific initiatives, contact the Mark Egly Foundation Research Program.
Together, we're building the evidence base that will change medicine and save lives for generations to come.