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Genetic and Rare Diseases Information Center (GARD)

Epidermolysis bullosa simplex

News & Events

ORDR Co-Sponsored Conferences

  • 2015 Epithelial Differentiation and Keratinization Gordon Research Conference & Gordon Research Seminar, Saturday, July 11, 2015 - Friday, July 17, 2015
    Location: Sunday River Resort, Bethel, Maine
    Description: Specific Aim:  Provide an outstanding scientific program reflecting the latest conceptual advances: Invited speakers include leading investigators in epithelial biology and early career scientists with innovative and exciting stories. The program covers areas of persistent interest such as stem cells, regeneration and aging, epithelial adhesion and polarity, epithelial cancers and rare diseases, and explores new topics including the epithelial-environmental interactions, novel regulatory mechanisms involving long noncoding RNAs and chromatin modifiers, exciting advances in live imaging, and genomics approaches to understanding development, carcinogenesis and evolution.

  • EB2015: DEBRA International Symposium on Epidermolysis Bullosa, Sunday, May 03, 2015 - Wednesday, May 06, 2015
    Location: Atlanta, GA
    Description: <p>Brett Kopelan, Executive Director of DEBRA of America, is proud to announce that the breadth of expertise and topics covered in the 'bench to bedside' programme has resulted in the National Institutes of Health (NIH) agreeing to provide funding for the conference. <br /> <br /> The conference will showcase the incredible strides over the last 3 years in the development of therapies and in the understanding of the disease in general. Speakers will focus not only on the basic science, but also on the translational work, new approaches to therapy, symptom relief, as well as clinical trial progress. </p> <p>While the conference is by invitation only, we are soliciting many up and coming researchers to present their work to the more seasoned EB community in hopes of having them continue the progress we have achieved. Mr. Kopelan will be giving an update in September at the DEBRA International congress in London. </p>

  • 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
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