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
linked to AATD
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. For decades, it was seen as a liver and lung disease. We now know it connects to far more.
Lungs & Liver
The traditional view. AATD causes emphysema, COPD, and liver disease. Still devastating, still underdiagnosed.
152 Autoimmune Conditions
Mark's patent identifies AATD's connection to 152 autoimmune diseases, from rheumatoid arthritis to lupus.
Multiple Cancers
Emerging research links AAT deficiency to breast, lung, prostate, ovarian, and other cancers that claimed Mark's family.
Neurological Conditions
AAT's anti-inflammatory properties may offer protective effects in Alzheimer's, ALS, Parkinson's, and MS.
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's role in cancer prevention, neurological disease, autoimmune conditions, and innovative delivery mechanisms. Our goal is to expand treatment far beyond current liver and lung criteria.
Oncology
AAT's role in cancer prevention and metastasis inhibition
Neurology
Protective effects in Alzheimer's, ALS, Parkinson's, and MS
Gene Therapy
Alternative AAT production for cost-effective treatment
Autoimmunity
152 conditions linked to AATD awaiting clinical trials
Augmentation Therapy
Novel delivery methods, dosing protocols, expanded indications
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.