RARE follows one extraordinary mother in a race against time to cure her daughter's genetic disease. When Donna Appell learned that her infant daughter Ashley had an extremely rare genetic disease that would kill her in thirty years, she set out to track down every person in the world with Hermansky Pudlak Syndrome. Now, twenty years later, RARE follows Donna and her advocacy group of hundreds of patients in a race against time to fill a clinical trial that could save her daughter's life. A new documentary was created by Stanford filmakers Maren Grainger-Monsen MD, director of the Program of Bioethics and Film and Nicole Newnham.
click on picture and watch RARE trailer
Today at 6 p.m. will take place free screening of the film RARE in the Clark Center Auditorium, Stanford University, Stanford, California, USA.
Hermansky-Pudlak syndrome (HPS) is a rare group of autosomal recessive diseases whose manifestations include oculocutaneous albinism, bleeding, and lysosomal ceroid storage. Its etiology has been related to defects in 7 genes: HPS1, HPS2 (AP3B1), HPS3, HPS4, HPS5, HPS6, and HPS7. Hermansky-Pudlak syndrome was first noted in 1959 by Hermansky and Pudlak, who described 2 unrelated persons with albinism with lifelong bleeding tendencies and peculiar pigmented reticular cells in the bone marrow as well as in biopsy samples of the lymph node and the liver. Pulmonary fibrosis, inflammatory bowel disease, and kidney disease are all symptoms linked to ceroid accumulation in the cells of these organs.
For gathering and dissemination of information about Hermansky-Pudlak syndrome, for promotion of awareness and research, and for support for all patients with Hermansky-Pudlak syndrome was created in USA The Hermansky-Pudlak Syndrome Network Inc.
The Hermansky-Pudlak Syndrome Network Inc. is a not for profit support group for people and families dealing with Hermansky-Pudlak Syndrome (HPS) and related disorders such as Chediak Higashi Syndrome. The HPS Network was founded in 1992 and incorporated in 1995.