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Diseases

Genetic and Rare Diseases Information Center (GARD)

Charcot-Marie-Tooth disease with ptosis and parkinsonism


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News & Events


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.

  • FTD Workshop to Develop CDEs and Pathology Data Elements for Future Clinical Studies, Tuesday, February 02, 2010 - Wednesday, February 03, 2010
    Location: Miami, Florida
    Description: The goals of the workshop were to (1) establish a protocol for standardized collection of first and serial neurological and neuropsychological data on FTD patients within the interested ADCs; (2) establish FTD-specific pathology data elements and determine whether the ADC pathology protocol addresses these elements or modification is needed for a FTD-specific pathology module; (3) develop a plan to integrate FTD data into the NACC data structure and allow linkage to other ADCs; (4) develop a mechanism to roll out a new data plan within the ADC community; and (5) form a clinical task force for FTD to monitor collection of standardized data.

Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.