Working With Us

Partnership in Progress: Advancing Alpha-1 Research Together

The Mark Egly Foundation is dedicated to identifying, supporting, and collaborating with researchers who are pioneering breakthroughs in Alpha-1 Antitrypsin Deficiency. We believe that meaningful progress requires partnership—between researchers and patients, between institutions and advocates, and between scientific innovation and real-world impact.

Our Research Mission

We actively seek and support promising research that advances understanding and treatment of:

• Alpha-1 Antitrypsin Deficiency in all its manifestations
• Comorbidities and related conditions linked to AAT deficiency
• Novel therapeutic applications of Alpha-1 Antitrypsin
• All conditions identified in Mark Egly's comprehensive patent filing
• Diagnostic innovations that improve early detection
• Quality of life improvements for patients and caregivers

Why Partner With the Mark Egly Foundation?

Patient-Centered Research

We bring the patient perspective to every research initiative. Our foundation is built on lived experience, and we ensure that research priorities align with the real needs of the Alpha-1 community.

Unique Knowledge Base

Mark Egly's pioneering research has identified connections between AATD and over 152 autoimmune diseases, creating an unprecedented research landscape. We provide access to this groundbreaking framework that can guide innovative studies.

Community Connection

With direct ties to the Alpha-1 patient community, we can:

• Facilitate patient recruitment for clinical trials
• Provide real-world insights into disease progression and symptoms
• Gather patient-reported outcomes and experiences
• Build awareness and participation in research initiatives

Collaborative Spirit

We believe the best research emerges from collaboration. We actively foster connections between:

• Academic researchers and clinical practitioners
• Pharmaceutical companies and non-profit organizations
• Geneticists, pulmonologists, hepatologists, and specialists across disciplines
• International research teams working on Alpha-1

Flexible Partnership Models

We work with researchers in ways that fit their needs:

• Direct research funding and grants
• Co-sponsorship of larger studies
• Data sharing and patient registry access
• Community engagement and awareness support
• Advocacy for regulatory pathways and policy changes

Types of Research Collaborations

Clinical Research

Clinical Trials Support

• Patient recruitment assistance
• Community education about trial opportunities
• Long-term follow-up coordination
• Patient advocacy and retention support

Observational Studies

• Access to patient populations
• Survey distribution and data collection
• Longitudinal study facilitation
• Real-world evidence gathering

Basic Science Research

Molecular & Genetic Studies

• Investigation of SERPINA1 gene variants
• Protein folding and function research
• Genetic modifier identification
• Novel allele characterization

Disease Mechanism Research

• Inflammatory pathway studies
• Multi-organ system investigations
• Comorbidity connection research
• Preventive intervention studies

Translational Research

Therapeutic Development

• Novel drug target identification
• Augmentation therapy improvements
• Gene therapy approaches
• Personalized medicine strategies

Diagnostic Innovation

• Biomarker discovery
• Screening method development
• Point-of-care testing
• Newborn screening optimization

Health Services Research

Care Delivery Models

• Treatment access and adherence studies
• Healthcare utilization patterns
• Cost-effectiveness analyses
• Health equity investigations

Patient & Caregiver Studies

• Quality of life assessments
• Psychosocial impact research
• Caregiver burden and support
• Patient education effectiveness

How to Begin Working With Us

Initial Consultation

Step 1: Reach Out
Contact our research team to discuss your project concept, research goals, and how the Foundation might support your work.

Step 2: Exploratory Meeting
We'll schedule a conversation to explore alignment between your research priorities and our mission, discuss collaboration possibilities, and identify resources we can provide.

Step 3: Proposal Development
For formal partnerships, we'll work with you to develop a detailed proposal outlining objectives, methods, timeline, budget, and expected outcomes.

What We Need From You

Research Proposals Should Include:

• Clear research questions and hypotheses
• Methodology and study design
• Expected timeline and milestones
• Budget and resource requirements
• IRB approval status or plan
• Patient engagement strategy
• Dissemination plan for findings
• Potential impact on Alpha-1 community

What You Can Expect From Us

Foundation Support May Include:

• Financial support through grants or sponsorship
• Patient recruitment and community outreach
• Access to patient registries and databases
• Educational materials for study participants
• Advocacy support for research priorities
• Collaboration with other researchers in our network
• Amplification of research findings through our platforms
• Ongoing consultation and partnership throughout the study

Areas of Particular Interest

While we support diverse research approaches, we're especially interested in projects that:

Address Critical Gaps

• Universal newborn screening implementation
• Rare allele characterization and clinical impact
• Long-term outcomes of early intervention
• Non-pulmonary manifestations of AATD

Explore Mark's Patent Framework

• Connections between AATD and autoimmune diseases
• AAT's protective role across organ systems
• Novel therapeutic applications of AAT protein
• Genetic and environmental interactions

Improve Patient Outcomes

• Early diagnosis strategies
• Treatment optimization
• Quality of life interventions
• Reduced diagnostic odyssey duration

Advance Health Equity

• Screening in underrepresented populations
• Access to care barriers
• Cultural and linguistic appropriate interventions
• Global AATD awareness and diagnosis

Research Ethics & Standards

The Mark Egly Foundation is committed to:

• Patient Privacy: All research must comply with HIPAA and data protection regulations
• Informed Consent: Clear, understandable consent processes for all participants
• Ethical Review: IRB approval for human subjects research
• Transparency: Open communication about research goals, methods, and findings
• Data Integrity: Rigorous scientific standards and reproducible methods
• Publication: Support for peer-reviewed publication of findings
• Community Benefit: Research that ultimately serves the Alpha-1 community

Success Stories

Building a Research Legacy

While the Mark Egly Foundation is establishing its research program, we're building on the strong foundation of Mark's groundbreaking work. His patent filing alone has opened countless research directions that will keep the scientific community engaged for years to come.

We're just getting started, and we want you to be part of this journey.

Connect With Our Research Team

Ready to explore a partnership? Have questions about working with us? Want to share preliminary findings or discuss a research idea?

Contact Us:
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Researcher Network:
Join our growing community of Alpha-1 investigators for collaboration opportunities, knowledge sharing, and joint projects.

Your Research Could Change Everything

For the millions of people worldwide living with undiagnosed Alpha-1 Antitrypsin Deficiency, your research represents hope. For families seeking answers, your work provides clarity. For future generations, your discoveries create possibilities.

Let's work together to transform Alpha-1 care.

"Science advances fastest when we combine rigorous research with deep compassion for those we serve."
— In honor of Mark Egly, researcher, advocate, and inspiration