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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Emery-Dreifuss muscular dystrophy


Other Names for this Disease

  • EDMD
  • Humeroperoneal neuromuscular disease, (formerly)
  • Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
  • Scapuloperoneal syndrome, X-linked (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Conferences


ORDR-Sponsored Conferences

  • Economic Considerations in the Development of Therapies for Neuromuscular Disease, Sunday, September 21, 2014 - Tuesday, September 23, 2014
    Location: Beaver Hollow Conference Center, Java Center, NY
    Description: <p>The goals of the conference are:<span>&nbsp; </span>1.) To provide an informal environment away from competing activities for the interaction/ development of collaborations among established investigators and between senior and new/junior investigators, and to present a collaborative environment for new project development among investigators.<span>&nbsp; </span>2.) To offer senior investigators opportunities to determine the appropriateness of sites/investigators to participate in new trials, providing an entry point for junior trainees/investigators to become involved in studies.<span>&nbsp; </span>3.) To provide an opportunity for industry representatives to interact with clinical investigators to discuss collaboration.<span>&nbsp; </span>These discussions will increase investigator involvement with new industry therapeutics.</p>

  • The Spectrum of Caregiving and Palliative Care in Rare Diseases, August 2014
    Location: NIH Natcher Conference Center, Bethesda, MD
    Description: The findings and recommendations resulting from the Workshop will provide guidance to the extramural community as well as to NINR and other Institutes, Offices (e.g., ORDR), and agencies in developing strategies for advancing the science of palliative care and caregiving in rare disease and research programs. It is anticipated that a funding opportunity announcement will result from the Workshop.

  • 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>

  • RDCRN 3rd Conference on Clinical Research for Rare Diseases, Tuesday, October 02, 2012
    Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
    Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.

  • Translational Neuromuscular Research, Diverse Diseases, Convergent Themes, Monday, September 19, 2011 - Wednesday, September 21, 2011
    Location: Beaver Hollow Conference Center, Java Center, NY
    Description: The infrastructure for this conference was developed by the MSG, whose investigators have worked for the past 10 years to secure extramural funding and to develop outcome measures for clinical research/experimental muscle and other neuromuscular diseases. The goal of this conference is to help identify commonalities across therapy development in neuromuscular disease to help ensure that lessons learned in any one disease are disseminated across the neuromuscular community.

  • 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.

  • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , Thursday, March 18, 2010 - Saturday, March 20, 2010
    Location: Palais Rouge Convention Center, Palermo, Buenos Aires, Argentina
    Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.

Other Names for this Disease
  • EDMD
  • Humeroperoneal neuromuscular disease, (formerly)
  • Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
  • Scapuloperoneal syndrome, X-linked (formerly)
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.