Multiple system atrophy
- Multisystem atrophy
News & Events
On this page
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.
Third NIH Workshop on Gaucher Disease and Parkinsonism, Thursday, April 08, 2010 - Friday, April 09, 2010
Location: NIH- the Cloister, Bethesda, Maryland
Description: Workshop goals were to (1) determine the appropriate human, animal, or cell-based models to better understand this correlation; (2) explore the mechanisms and/or pathways involved; and (3) establish international collaborations to enhance progress in the field and to make recommendations for future study.
Workshop on Glucocerebrosidase and the Synucleinopathies, 2004
Location: NIH Fogarty Center, Bethesda, MD
Description: Several new studies have reported evidence for an association between Gaucher disease, the inherited deficiency of glucocerebrosidase, and the synucleinopathies, clinically diverse neurodegenerative disorders characterized by fibrillar α-synuclein inclusions in neuronal and/or glial cell populations. Recently, several groups have reported findings that show an increased frequency of Gaucher mutations in patients with parkinsonism. This conference brought together basic researchers, pathologists, and clinicians from diverse backgrounds studying synucleinopathies and/or Gaucher disease to explore the etiology and significance of this association. The format included presentations from invited speakers and roundtable discussions. Agenda items included talks on clinical, natural history, animal, pathology, cell biology, protein, and molecular studies as well as discussions of strategies for future research and therapeutic advances. A consensus statement will be drafted for publication. Goals included (1) understanding the contribution of mutant glucocerebrosidase to the development of synucleinopathies, (2) better establishing the frequency of this association in different clinical cohorts and determining the relative risk of developing parkinsonism in Gaucher patients and heterozygotes, and (3) raising awareness of how heterozygosity for a rare disease may be a risk factor for common disorders.