Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Epidermolysis bullosa simplex


News & Events


NCATS Co-Sponsored Conferences

  • 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>

Other Names for this Disease
  • Epidermolysis bullosa intraepidermic
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.