- Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
- Delta storage pool disease
- Hermansky Pudlak syndrome
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ORDR Co-Sponsored Conferences
2016 Rare Disease Day at NIH, Monday, February 29, 2016
Location: Building 10, Masur Auditorium, National Institutes of Health, Bethesda, MD
Description: The 2016 Rare Disease Day at NIH will take place on February 29. The event, sponsored by NCATS and the NIH Clinical Center, aims to raise awareness about rare diseases, the patients they affect and the research collaborations that are addressing rare disease challenges. The day will feature tours, posters and exhibits, and presentations.
Gordon Research Conference and Gordon Research Seminar on Lysosomes and Endocytosis, Sunday, June 15, 2014 - Friday, June 20, 2014
Location: Proctor Academy, Andover, NH
Description: <p>The main goal of the Lysosomes and Endocytosis GRC is to foster the dissemination of current research results and the establishment of new research areas and new collaborations in the area of the cell biology of endocytosis, lysosomes, endosomes and related organelles. We hope that many of these new directions and collaborations will be directed toward the etiology, diagnosis and treatment of rare genetic diseases such as lysosomal storage disorders, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Niemann Pick disease and tuberous sclerosis, among others.</p>
Insights into the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome, Thursday, September 15, 2011 - Friday, September 16, 2011
Location: Lawton Chiles International House (Stone House), National Institutes of Health, Bethesda, MD
Description: The goals of this conference are to guide the future direction of studies focusing on pathogenic mechanisms of Hermansky-Pudlak syndrome (HPS) pulmonary fibrosis and to identify potential therapeutic strategies for the treatment of pulmonary fibrosis of HPS.