The Alpha-1 Foundation (A1F) has announced a groundbreaking advancement in the fight against Alpha-1 Antitrypsin Deficiency (AATD) with the launch of AlphaDetect, a dedicated non-profit subsidiary focused on revolutionizing the detection of this underdiagnosed genetic condition. According to The AI Journal, despite decades of research and clinical guidelines, over 90% of people with Alpha-1 remain undiagnosed, leaving them vulnerable to irreversible lung and liver damage. AlphaDetect aims to change this paradigm by uniting patients, healthcare providers, advocates, and industry partners in a mission to ensure no one with Alpha-1 is left unidentified.
Alpha-1 is a hereditary disorder that dramatically raises the risk of adult pulmonary emphysema and liver disease in both children and adults. Delayed diagnosis often results in advanced organ damage and poorer outcomes. Dr. James Stoller, Chairman of the Education Institute at Cleveland Clinic and AlphaDetect Board Chair, emphasizes that while past efforts have made incremental progress, they haven’t significantly improved detection rates over the last 30 years—highlighting the urgent need for a more effective, sustainable solution.
AlphaDetect’s innovative approach centers on standardized, integrated screening within lung and liver care models, as well as empowering patients to seek answers for themselves. A key feature is the offer of free genetic testing for AATD, conducted in an in-house AlphaDetect lab and provided at no cost to patients or their insurers. This removes a significant barrier to detection and enables earlier diagnosis.
The new model also includes a confidential, on-site customer care team ready to support both patients and providers with information about testing, kit logistics, and results. Additionally, a physician specializing in AATD will be available to answer complex clinical or scientific questions, ensuring that healthcare professionals are fully supported throughout the detection process. To further foster innovation, AlphaDetect will provide an incubator space for research and pilot programs related to Alpha-1 detection, advancing both lung and liver disease discovery.
Led by CEO Julie Murray, whose 20 years of leadership in rare disease strategy will guide the organization, AlphaDetect’s leadership team boasts deep experience in detection, operations, and provider engagement. Notable board members include Dr. Mark Brantly, a prominent Alpha-1 specialist, and Scott Santarella, President and CEO of the Alpha-1 Foundation, among other leaders from academia, the medical field, and patient advocacy.
AlphaDetect is funded by A1F, industry contributions—including an initial commitment from CSL—and community fundraising. The initiative builds on the foundation laid by longstanding detection programs and the tireless work of advocates, healthcare professionals, and patients. As AlphaDetect prepares for its official launch in mid-2026, the Alpha-1 Foundation remains committed to collaboration and innovation, with the shared goal of transforming detection and improving outcomes for all affected by Alpha-1.
With this unified, patient-centered approach, AlphaDetect promises to usher in a new era of early diagnosis and support, offering renewed hope for the Alpha-1 community.
