Alpha-1 Antitrypsin Deficiency · Global Education & Research
A Protein Deficiency
Behind Hundreds of Diseases.
One Foundation Changing That.
The Mark Egly Foundation is educating physicians across 30+ specialties and funding breakthrough research to end preventable suffering from Alpha-1 Antitrypsin Deficiency.
100M+
People potentially affected
30+
Medical specialties engaged
15+
Countries in our network
100M+
People Possibly Undiagnosed
worldwide
152
Autoimmune Conditions
named in research hypothesis
45 yrs
Mark's Research Journey
to find the answer
8,000
Previously Known Cases
at time of discovery
The Origin
A Family's History.
One Man's 45-Year Search.
For decades, Mark Egly watched family members die too young: breast cancer, lung cancer, prostate cancer, respiratory failure. As a lifelong non-smoker and professional athlete diagnosed with COPD and emphysema, he refused to accept "unexplained."
Within five days of intensive research, he identified Alpha-1 Antitrypsin Deficiency, a single protein deficiency connecting generations of tragedy. His discoveries led to a U.S. Patent filing: "Method of Preventing and/or Treating a Plurality of Diseases."
2018
Diagnosed with COPD & emphysema despite never smoking
2018
Identified AATD within 5 days of self-directed research
2020
Filed U.S. Patent: Method of Preventing/Treating a Plurality of Diseases
2023
Founded the Mark Egly Foundation to educate physicians worldwide
2025
Engaged 100+ physicians across 20+ specialties in 15+ countries
Understanding the Condition
Alpha-1 Antitrypsin Deficiency Is Not Rare. It's Undiagnosed
AATD is a deficiency of a single critical protein, Alpha-1 Antitrypsin, that protects tissues throughout the body from inflammation and damage. Established medicine recognizes lung and liver disease. Broader autoimmune, cancer, and neurological connections below are research hypotheses from Mark Egly's patent work and are labeled accordingly.
Lungs & Liver
Research status: Established clinical knowledge
Established clinical knowledge. Severe AATD can cause emphysema, COPD, and liver disease, and remains underdiagnosed.
152 Autoimmune Conditions
Research status: Investigational / hypothesis
Investigational. Mark's patent names many autoimmune diseases in connection with low AAT or AATD. Independent clinical validation is still required.
Multiple Cancers
Research status: Investigational / hypothesis
Investigational. Emerging research questions explore whether AAT biology relates to inflammation pathways discussed in some cancers. Not proven prevention or treatment.
Neurological Conditions
Research status: Investigational / hypothesis
Investigational. Possible links to Alzheimer's, ALS, Parkinson's, and MS are research hypotheses, not established protective therapy.
Sources for this section
References checked July 26, 2026
- Alpha-1 antitrypsin deficiency (MedlinePlus Genetics (NIH))Research status: Established clinical knowledge
- American Thoracic Society / European Respiratory Society statements on lung disease (locate current AATD guidance) (American Thoracic Society)Research status: Established clinical knowledgeUse the current ATS/ERS AATD statements applicable to your practice.
- Alpha-1 Foundation clinical and patient education resources (Alpha-1 Foundation)Research status: Established clinical knowledge
- Method of Preventing and/or Treating a Plurality of Diseases (Mark Egly patent disclosure summary) (Mark Egly Foundation patent overview)Research status: Investigational / hypothesisPrimary source for Mark Egly research hypotheses. Not peer-reviewed clinical evidence. Confirm USPTO application number with counsel before citing externally.
Educational content only. Not a diagnosis or treatment plan. Work with your clinician for personal medical decisions.
How We Work
Three Pillars of Our Mission
Educate Physicians
We are training doctors across 30+ specialties, from oncology to neurology, to recognize AATD as the systemic condition it truly is.
Support Patients
From newly diagnosed to long-term management, we provide resources, community, and advocacy so no one navigates AATD alone.
Fund Research
We fund targeted studies exploring AAT's role in cancer, neurological disease, and autoimmune conditions, expanding what's possible.
The Standard of Care
We're Changing What "Normal Medicine" Looks Like for AATD
Standard of care is the medical community's accepted treatment protocol. We're working with physicians, medical societies, and insurance providers to update it so AATD screening becomes routine before irreversible damage occurs.
For Researchers
Funding Groundbreaking Alpha-1 Research
We fund targeted research into AAT biology beyond classic lung and liver disease. Focus areas below include investigational questions. They are not claims of proven therapy.
Oncology
Research status: Investigational / hypothesis
Investigational: AAT biology questions related to cancer prevention research framing
Neurology
Research status: Investigational / hypothesis
Investigational: possible intersections with Alzheimer's, ALS, Parkinson's, and MS
Gene Therapy
Research status: Emerging evidence
Emerging field interest: alternative AAT production approaches
Autoimmunity
Research status: Investigational / hypothesis
Investigational: 152 conditions named in patent research awaiting independent trials
Augmentation Therapy
Research status: Established clinical knowledge
Established for select severe AATD lung indications; expanded uses remain investigational
Sources for research focus areas
References checked July 26, 2026
- Alpha-1 antitrypsin deficiency (MedlinePlus Genetics (NIH))Research status: Established clinical knowledge
- American Thoracic Society / European Respiratory Society statements on lung disease (locate current AATD guidance) (American Thoracic Society)Research status: Established clinical knowledgeUse the current ATS/ERS AATD statements applicable to your practice.
- Alpha-1 Foundation clinical and patient education resources (Alpha-1 Foundation)Research status: Established clinical knowledge
- Method of Preventing and/or Treating a Plurality of Diseases (Mark Egly patent disclosure summary) (Mark Egly Foundation patent overview)Research status: Investigational / hypothesisPrimary source for Mark Egly research hypotheses. Not peer-reviewed clinical evidence. Confirm USPTO application number with counsel before citing externally.
Educational content only. Not a diagnosis or treatment plan. Work with your clinician for personal medical decisions.
Join Our Mission
Every Contribution Brings Us Closer to a Diagnosis That Saves Lives
Your support funds physician education, patient resources, and the research needed to change the standard of care for millions of undiagnosed people worldwide.