Mark Egly Foundation
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Funded Studies

The Mark Egly Foundation is committed to advancing the science of Alpha-1 Antitrypsin Deficiency through strategic research funding. We support innovative studies across the full spectrum of scientific discovery—from basic laboratory research to translational applications and clinical trials—all with the goal of accelerating breakthroughs that will improve lives.

Our Research Mission

Our funding priorities focus on accelerating discoveries that will:

  • Expand understanding of Alpha-1 Antitrypsin's role throughout the human body
  • Develop novel therapeutic approaches beyond traditional augmentation therapy
  • Improve early detection and screening methodologies
  • Enhance treatment efficacy and patient outcomes
  • Reduce barriers to care and increase access to life-saving therapies
  • Prevent disease progression before significant organ damage occurs

Areas of Research Support

Basic Science

Fundamental research exploring the molecular mechanisms, genetic factors, and biological pathways involved in Alpha-1 Antitrypsin production, function, and deficiency.

Translational Research

Studies that bridge laboratory discoveries with clinical applications, transforming scientific insights into practical diagnostic tools and therapeutic interventions.

Clinical Trials

Patient-centered research evaluating new treatments, delivery methods, and care protocols to improve outcomes for individuals living with AATD.

Epidemiology and Public Health

Research examining the prevalence, diagnosis rates, and health impacts of AATD across diverse populations to inform screening recommendations and healthcare policy.

Current Research Priorities

The Foundation is particularly interested in supporting research that addresses:

  • Innovative delivery systems for Alpha-1 Antitrypsin therapy
  • Gene therapy and gene editing approaches
  • Novel therapeutic targets beyond traditional augmentation
  • Biomarkers for early disease detection and monitoring
  • Patient-reported outcomes and quality of life measures
  • Health disparities in AATD diagnosis and treatment access
  • Pediatric populations and early intervention strategies

Our Commitment to Open Science

We believe in accelerating progress through collaboration and transparency. Studies funded by the Mark Egly Foundation are encouraged to:

  • Share data and findings with the broader research community
  • Publish results in peer-reviewed, open-access journals when possible
  • Present findings at scientific conferences and patient advocacy events
  • Collaborate with other researchers and institutions
  • Engage with patient communities throughout the research process

Upcoming Announcements

We are actively building our research portfolio and will be announcing our first funded studies soon. This page will be regularly updated with:

  • Details of funded research projects
  • Principal investigators and institutions
  • Study objectives and timelines
  • Published findings and outcomes
  • Impact stories from the research community

Grant Opportunities

Information about grant applications, funding cycles, and research priorities will be available as our grant program launches. Researchers interested in partnering with the Mark Egly Foundation are encouraged to check back for updates.

Making an Impact

Through strategic research investment, the Mark Egly Foundation honors Mark's legacy of innovation and his unwavering commitment to improving Alpha-1 Antitrypsin therapies. Every study we fund brings us closer to a future where:

  • AATD is detected early through universal screening
  • Effective treatments are accessible to all who need them
  • Disease progression can be prevented or reversed
  • Individuals with AATD can live full, healthy lives

Together, we are accelerating discoveries that will transform the standard of care for Alpha-1 Antitrypsin Deficiency and improve outcomes for patients worldwide.