References
Clinical Trials
In 1995, the National Institutes of Health invited their first person with HPS to go to the Clinical Center in Bethesda, Maryland. Protocols to study HPS began and are indexed on the ClinicalTrial.gov site that is linked here: Visit Site
Scientific Publications Library
The most authoritative and comprehensive publication on the subject of Hermansky-Pudlak Syndrome can be found here: GeneReviews
Special Strain of Mice to Study Human Disease
Research continues as shown by this article. A murine model(special strain of mice to study human disease) has been developed for the study of HPS pulmonary fibrosis. A different mode of putting Bleomycin ( a chemotherapeutic antibiotic) into the mice model was performed and showed to be successful. This mode slowed down the progression of pulmonary fibrosis enabling researchers to better study the mechanism of lung disease in HPS which will help lead to a therapeutic treatment. Read the complete article here: May 4, 2022 publication
Related Organizations
National Organization for Albinism and Hypopigmentation, NOAH
National Organization of Rare Disorders, NORD
National Institutes of Health, NIH
General Information Articles
- MRI-1867, Dual Target Cannabinoid Receptor 1 (CB1R) and Inducible Nitric Oxide Synthase (iNOS) Inhibitor, for Effective Anti-Fibrotic Therapy for Hermansky-Pudlak Syndrome Pulmonary Fibrosis in Pale Ear Mic
- Hermansky-Pudlak Syndrome and Lung Transplantation: A Single Center Case Study
- Multidisciplinary Care for Hermansky Pudlak Syndrome Adult Patients in Puerto Rico
- Hermansky Pudlak Syndrome – Pulmonary Fibrosis in Early Adulthood
- Dr. Mueller CRISPR gene editing article
- Dr. Seward Standard of Care
- Dr. Gahl Gene Review
- HPS_Book chapter De Jesus_Young
- HPS Lung Transplant article