Additionally, elevated BALF levels of the endocannabinoid anandamide (AEA) in HPSPF patients were negatively correlated with PFT results, further suggesting a pathological role of CB1R. However, lack of access to human lung tissue from early disease stages limited our ability to dissect the role of these proteins in the initiation and early progression of PF in HPS. The gene discussed is CNR1; the disease is Hermansky-Pudlak syndrome.