ATS Breathe Easy - ATS 2026: How a Rare Genetic Disorder Could Change Lung Disease Care

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder that causes albinism, bleeding problems, and a high risk of developing pulmonary fibrosis. However, patients with HPS provide an important population for researchers looking for biomarkers that predict the onset and progression of pulmonary fibrosis. On this ATS Breathe Easy podcast episode, expert Resat Cinar, PhD, MBA, National Institute on Alcohol Abuse and Alcoholism, and patient advocate and founder of the Hermansky-Pudlak Syndrome Network Donna Appell, RN, discuss how HPS has helped researchers better understand pulmonary fibrosis, and how research on rare diseases can generate insights that benefit much larger patient populations.