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EMJ Podcast: Insights For Healthcare Professionals

Unpacking Rare Lung Diseases: Alpha-1 Antitrypsin Deficiency: Deep Dive 2

24 Jul 2025

Description

In the first episode of our Rare Lung Diseases podcast series, host Saranya Ravindran speaks with James Stoller, Chief of Education and Pulmonary Physician at Cleveland Clinic, about Alpha-1 antitrypsin deficiency, a rare genetic condition that is frequently underdiagnosed. The discussion explores the complexities of Alpha 1, including current challenges in detection, advances in diagnosis and management, and what the future may hold for improving care. Timestamps: 1:20 - Current barriers to timely diagnosis 4:35 - How close are we to identifying all patients with Alpha 1? 5:20 - Role of consumer genomics in alpha detection 6:20 – Targeted testing amongst COPD patients

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