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