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Diseases

Genetic and Rare Diseases Information Center (GARD)

Emery-Dreifuss muscular dystrophy, dominant type


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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.

  • New Directions in Biology and Disease of Skeletal Muscle, Sunday, June 29, 2014 - Wednesday, July 02, 2014
    Location: Chicago, IL
    Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.

  • Gordon Research Conference – Intermediate Filaments, Saturday, June 14, 2014 - Friday, June 20, 2014
    Location: Mount Snow Resort, West Dover, VT
    Description: <p>The 2014 GRC-Intermediate Filaments will include short talks, discussions, and poster presentations from the leaders in the field. It will provides several functional perspectives with an emphasis on the paradigm shifting notion that IFs are not only structural proteins but also play essential roles as signaling organizers and buffers of cellular stress, which contribute to number of disease pathologies. There will be robust discussions on how mutations in the IF genes encoding these IF proteins are responsible for rare diseases, such as epidermolysis bullosa simplex (EBS), but extending into the entire list of rare diseases outlined above.<span>&nbsp; </span>Discussions will be focused on how cell biology and physiology efforts are providing unique therapeutic approaches to the highly complex disorders, such as those caused by lamin A/C gene mutations, which are involved in Progeria.</p>

  • The Ottawa Conference on New Directions in Biology and Disease of Skeletal Muscle, Wednesday, May 05, 2010 - Thursday, May 06, 2010
    Location: Ottawa, Ontario, Canada
    Description: The conference highlighted current developments in muscle biology, disease, and therapy with presentations by leading international researchers.

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